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 GENETICS 2

Genetics

DEFINITION

 Study of heredity of variation is known as Genetics.

 Variation can be studied in offspring or siblings of biparental sexual reproduction.
 Siblings are offspring at different births, They are similar to their parents, race and species. Whole
group of similar individual (Ramets) is called clone.
(1) Father of genetics - Gregor Johann Mendel.
(2) Father of modern genetics - Bateson.
 Genetics term was given by Bateson
(3) Father of experimental genetics- Morgan experiments on Fruit fly (Drosophila melanogester).
(4) Father of actinobiology - Muller.
 (Actinobiology-Study of effect of radiation on living organism).
(5) Father of human Genetics Garrod. Book written by Garrod is “In Born error of metabolism”. First
genetic disorder in human being “Alkaptonuria” discovered by Garrod.
(6) Father of Eugenics- Galton.
Eugenics- Improvement of man kind by applying laws of inheritance.
Euthenics- Improvement of man kind by improving the environment.
Euphenics- Medical engineering Include the treatment of genetic disorder.
(7) Johanssen- Gave the terms Gene, Genotype and phenotype

VARIATIONS:
Differences in individuals is called variation.
Variation are of two types:-
(1) Somatic variation (2) Germinal Variations.
(1) Somatic Variation:
 Somatic variation is also called acquired variations , these are non-inheritable, disappear with the
death of the individual.
 They are from due to environmental factors (Medium, Light, Temperature, Nutrition, Water),
use and disuses of organs and conscious efforts.
(2) Germinal Variation:
 These are inheritable variation because they appear in germinal cells. Germinal variations further divided
into two types:
(a) Continuous variations (Fluctuating variations): These are also called recombinations.
Continuous variations are of two types
(i) Meristic (Change in number)
(ii) Substantive (Change in character)
(b) Discontinuous variations : Due to mutation (Sudden change in genetic material)

HEREDITY (Like begets like) :

 Study of transmission of characters from parents to offsprings. Physical basis of heredity is
gene. Chemical basis of heredity is DNA.

PRE-MENDELISM :
 Pre-Mendelism theories of inheritance are also called theories of blending inheritance be-
cause they believed that traits of the two parents got blended in the offspring.

MENDELISM :
 Father of genetics Gregor Johann Mendel (1822-1884).
 Mendel was born in Austria 22th July 1822 in Silisia ( Heinzendorf.)
 GENETICS 3

 Mendel was plant breeder.

 He was monk in Augustinian Monastory in Brunn city. Now this city is called Bruno.
 Mendel did experiment in 1857 to 1865 (8 years) and published his results 1866 in the annual
proceeding of natural History society of Brunn the heading of his topic. “Versuche uberpflanzen
Hybriden” It means Hybridization experiment on plants.
 Mendel was unnoticed because scientific world was busy with “origin of species” of Charles
Darwin published in 1859.
 Conclusions of Mendel’s work was complicated because mendel use stastical Analysis or law
probability in his conclusions.
 Mendel died in 6 Jan. 1884 due to kidney failure.
 In 1900 three scientist searched the same conclusion which was published by.mendel 34 years
ago.
 These scientists are - (1) Hugo de Vries (Holland) (2) Carls correns (Germany) (3) Erik von
Tschermeck. (Austria).
 These scientist did experiment on Garden pea and maize plant.
 Hugo de vries rediscovered the Mendel’s paper and conclusion of mendel republished in (1901)
“flora” magazine and called father of genetics.
 Carls correns called the Mendel’s conclusion “Laws of inheritance”.
 First law of Inheritance is “Law of segregation”.
 Second law of inheritance is “Law of Independent assortment”.

SELECTION OF GARDEN PEA (Pisum sativum) :

(1) John Goss had already worked on Garden Pea.
(2) Short life cycle (2-3 months)
(3) Easy to cultivate
(4) Many contrasting character present in the garden pea.
(The study of contrasting character done by Segarat in garden pea.)
(5) Generally self pollination occur.
(Due to self pollination purity of plant can easily obtain).
(6) Artificially cross pollination also occur in garden pea.
(7) Hybrid plant are fertile in garden pea. [In animals Hybrids are generally sterile]
Mendel studies seven pair of contrasting character in the garden pea and these are-

Character Dominant Recessive

(1) Height of plant Tallness Dwarf ness
(2) Position of flower Axillary Terminal
(3) Color of flower /Seed coat Red / gray White / white
Red flower always contain gray seeds White flower Always contain white seed
(4) Color of pod Green Yellow
(5) Shape of pod Inflated Constricted
(6) Color of cotyledon Yellow Green
(7) Shape of seeds Round Wrinkled

 Mendel studied the three characters of pods-

(1) Position, (2) Colour, (3) Shape Mendel obtained wrinkle seeds due to absence of starch
branching enzyme (SBE).
 Rugosus gene is responsible for SBE. Mendelian Technique :
1. Emasculation - Removal of male sex organ (Anther) before maturation called Emasculation.
 Mendel use tall plant as a female. Dwarf plant used as a Male. Emasculation stops self pollination
2. Bagging - Emasculated flower covered with the Bag this technique is called Bagging.
 Bagging prevent the unwanted cross pollination. Reasons for Success of Mendel :
(i) Selection of Garden pea.
(ii) He chose only those traits which showed consists results.
 GENETICS 4

(iii) He was lucky in choosing those traits which showed complete independent assortment.
(iv) He was adept in statistical analysis.

Some definitions :
1. Mendelian Factor :
 Unit of inheritance (Gene).
2. Allele (Belongs to each other):
 Two alternate form of a gene is called Allele or factors that have opposite effect & present at
same locus of homologous chromosome called Allele.
3. Homozygous-
 Individual that have similar allele (factor) on Homologous chromosomes (TT or tt).
4. Heterozygous-
 Individual that have dissimilar factors called heterozygous (Tt). Homozygous and Heterozygous
terms give by Bateson and Saunders, 1902.
5. Dominant factor:
 Which expresses itself in the hybrid (heterozygote) as well as in homozygous state. It is denoted
by capital letter.
6. Recessive Factor :
 Which unable to express its effect in the hybrid. It is denoted by small letter. Recessive factor
expresses itself only in the homozygous state (e.g. tt, rr).
7. Reciprocal cross-
Tall (female) × Dwarf (male) Dwarf (female) × Tall (male)
F1 – Tall plant F1 – Tall plant
 A pair of cross in which male is one type and female is another type in one cross then viceversa
in second cross.
 Reciprocal cross does not effect the inheritance of characters according to Mendel
 Characters that are controlled by karyogenes are not affected by reciprocal cross.
 Characters that are controlled by cytogene affected by reciprocal cross. Through the reciprocal
cross we can find out cytoplasmic inheritance and sex linked trait.
 Characters that have their determining gene on sex chromosome this is called sex linked trait.
8. Back Cross-Cross of F, hybrid with any parents is called back cross.
 Back cross are of two type-
(1) Test cross (2) Out cross
(1) Test cross-
 When hybrid cross with its recessive parents only in test cross genotypic and phenotypic ratio
are same.

Test cross of Dihybrid

Yy Rr × yy rr
yr
yR YyRr (yellow round)

yr Yyrr (yellow wrinkled)

yR yyRr (green round)

yr yyrr (green wrinkled)

Genotypic ratio = Phenotypic ratio = 1:1:1:1

(2) Out cross -
 When F1 hybrid cross with the dominant parent. (Tt × TT)
 It has no same phenotypic and genotypic ratio.
9. Monohybrid Cross:
 When a cross is made to study the inheritance of one pair of contrasting character.
 GENETICS 5

10. Dihybrid Cross:

 A cross which is made to study the inheritance of two pairs of contrasting characters called
dihybrid cross.
11. Hybrid:
 Individual obtained after crossing two genetically different species.
12. Heterosis or Hybrid Vigour :
 Presence of superior qualities in the hybrid than either of the parents.
 Heterosis (Hybrid Vigour) term given by Shull.
13. Genotype:
 Genetic constitution of an individual e.g., TT (pure tall), Tt (hybrid tall), tt (dwarf).
14. Phenotype:
 External resembling of an individual e.g., TT and Tt both are tall plants.
 Genotype and Phenotype terms given by Johanssen.
15. Checker Board/Punnet Square :
 Which shows the result of a cross, both phenotypic and genotypic.
 Forked line method or branching system is also used to know phenotypic and genotypic prob-
abilities.

MONOHYBRID CROSS :
 When a cross is made to study the inheritance of one pair of contrasting character. This cross
is called monohybrid cross.
 Mendel take parent as homozygous.

Pure tall (TT) × Pure dwarf (tt)


F1 All tall plants (Hybrid tall)

Self pollination

F2 Tall Tall Tall Tall

(Pure) (Hybrid) (Hybrid) (Pure)
F3 Only tall 3 : 1 Tall & dwarf 3 : 1 Tall & dwarf Only dwarf

 He obtained first generation by parental cross pollination next further generation obtained by the
self pollination.
 Dwarfness is always pure in garden pea. 1/3 plants are pure tall. 2/3 plants are hybrid tall.
 Alphabatically representation given by Morgan. He called that dominant character represent by
T (Capital) letter.
 Recessive character is represented by t (Small) letter. 3 :1 ratio is called Mendelian ratio.
MENDEL’S LAW:
(1) Principle of unit character :
 In plants each character is controlled by one factor and factor always remain in a pair.
 Mendelian factor now called gene term is given by Johanssen.
(2) Law of Dominance :
 In F hybrid plant both contrasting factors are present but only one factor express itself in F 1
1
generation and this factor is called dominant.
 In F hybrid plant both contrasting Alleles are present.
1
 Factor that does not express itself in F, generation called recessive factor.
(3) Law of Segregation :
 At the time of gamete formation or gametogenesis both factor of a pair are separated to each
other and enter into the different gametes.
 Only one gamete have one factor. So gamete is pure for that character. So law of segregation is also
called law of purity of gamets.
 Law of segregation based of meiosis.
 GENETICS 6

DIHYBRID CROSS:
Characters are taken – Colour of cotyledon & Shape of seeds
Yellow & Round (YYRR) × Green & wrinkled (yyrr)

F1 Yellow & round (YyRr)

Yellow Round Yellow wrinkled Green round Green wrinkled

9 3 3 1
Phenotypic ratio = 9:3:3:1
 A cross which is made to study the inheritance of two pairs of contrasting characters called
dihybrid cross.
 When yellow and round seeded plant cross with the green wrinkled seeded plant then yellow
and round seeded plant are obtain in F1 generation.
 When Mendel obtained second generation through the self pollination then mendel found four
types of plant in 9:3:3:1 ratio.
 Ratio between parental and new combination is 5:3. 4. “Law of Independent assortment”
 According to this inheritances of different characters plant are independent to each other.
 In this example inheritance colour of cotyledons is independent inheritance of shape of seeds.
Due to independent assortment we obtain new combination in F2 generation.
 Number of types of gamete = 2n Here n = No. of heterozygous character.

Genotype No. of gamete No. of heterozygous

character
AaBb 22 = 4 2
AABB 20 = 1 0
AaBbCc 23 = 8 3
CHECKER BOARD :
 Given by Punnet so it is also called punnet square mathod through this method we find out the
combination of gametes.
(1) Monohybrid Cross – Phenotypic Ratio is 3 : 1 and Genotypic ratio is 1 : 2 : 1 (TT : Tt : tt)
(2) Dihybrid Cross – Yellow round (YYRR) × Green wrinkled (yyrr)

Yellow round (YyRr) (selfing)

YR Yr yR yr

YYRR YYRr YyRR YyRr

YR Yellow Round Yellow Round Yellow Round Yellow Round

YYRr YYrr YyRr Yyrr

Yr Round Yellow Yellow wrinkled Yellow Round Yellow wrinkled

YyRR YyRr yyRR yyRr

yR green Round
Yellow Round Yellow Round green Round

yr YyRr Yyrr yyRr yyrr

Yellow Round Yellow wrinkled green Round green Wrinkled
 GENETICS 7

Phenotypic Ratio = 9 : 3 : 3 : 1
Genotypic ratio = 1 : 2 : 1 : 2 : 4 : 2 : 1 : 2 : 1
POST-MENDELIAN DISCOVERIES : .
Gene Interaction :
 Modification of the normal phenotypic expression of genes due to interaction their alleles and
nonallelic genes.
 Gene interaction is of two types
(i) Intragenic (ii) Intergenic
(i) Intragenic or Interallelic interaction,
 Two alleles of a gene present on same gene locus on the two homologous chromosomes, react
with each other
e.g. - incomplete dominance, codominance, multiple alleles.
(ii) Intergenic or non-allelic interaction :
 Two or more independent genes belonging to same or different chromosomes interact to form a
different expression,
e.g. - complementary genes, supplementary genes, duplicate genes, epistasis, lethal genes.
INTRAGENIC OR INTERALLELIC INTERACTION
(1) INCOMPLETE DOMINANCE OR PARTIAL DOMINANCE
 Exceptions of law of dominance.
(A) Flower colour of mirabilis jalapa (four O’clock plant)
 It was discovered by Correns in the mirabilis jalapa.
Red × White

F1 Generation Pink (self cross)

F2 Generation Red Pink Pink White

(1 : 2 : 1)
Antirrhinum majus (Snapdragon) also show incomplete dominance, It is also called Dog
flower plant.
(B) Feather colour of Andalusian fowl :
Black × White

F1 Generation Blue (Submating)

F2 Generation Black Blue Blue White

 Genotype ratio = Phenotype ratio = 1 : 2 : 1.

 Siblings have same parents. Sibmating cross between the siblings.
(C) Inheritance of Tay-Sach’s disease in Man :
 In human beings biochemical disorders, such as Tay-Sach’s disease, represent incomplete
dominance.
 Homozygous recessive individuals are servely affected, while heterozygous individuals are phe-
notypically normal.
 In homozygous recessive individuals there is almost to activity of enzyme hexosaminidase is
absent.
 In heterozygous persons, this enzyme has 50 percent enzyme activity as compared to cent per
cent activity of the enzyme in homozygous dominants.
(2) CODOMINANCE
(A) Hair (Coat) colour of cattles
Black (BB) × White (WW)
F Generation Roan (BW)
1
F Generation Black Roan White (1 : 2: 1)
2
 GENETICS 8

 When both factor of a pair express themselves in F1 generation this condition is called
codominance. It has same genotypic and phenotypic ratio.
(B) Codominance in Andalusian Fowl
 In Andalusian fowl a cross between pure black and pure white splashed varieties results in slate
blue hybrids in Fr These hybrids of F, generation when crossed among themselves yield black,
slate blue and white fowls in 1 : 2 :1 ratio showing codominance of black and white.
(C) Blood group AB
 IAIB Both dominant.
 In human AB blood group is under the control of an autosomal gene pair.
 Both its alleles A and B are dominant because persons with AB genotype have AB phenotype and
possess both antigens A and B.
 If we represent these alleles as lAand IB , the three genotype and phenotypes are as follows :

Phenotype Genotype
A – Blood group |A|A
B – Blood group |B|B
AB – Blood group |A|B

Difference between Incomplete Dominance and Codominance

 Though the F2 phenotypic ratios are identical in both incomplete dominance and codominance,
there is difference in he correlation of alleles.
 In case of incomplete dominance the two alleles of a pair interact producing an intermediate
phenotype, whereas in codominance both the genes of allelic pair contribute equally to the phe-
notype and the phenotype is a mixture of the phenotypic traits produced by either of the alleles in
homozygous condition.
(3) OVERDOMINANCE (Super Dominance)
 Phenomenon of a heterozygote having more extreme phenotype than either of the homozygous
parents.
 When Drosophila with wild type eye is crossed with white eyed fly, the heterozygote is over-
dominant as it possesses higher level of certain fluorescent pigments.
(4) MULTIPLE ALLELES
 When a gene have more then two alternate form then this condition is called m u l -
tiple allele.
 Phenotype of blood group is of four types-
(i) Blood group A (ii) Blood group B (iii) Blood group AB (iv) Blood group O.
 Collectively called ABO blood group.

Blood group Genotype Antigen (Agglutinogen) Plasma factor

A |A|A / |A|0 A Anti B
B |B|B / |B|0 B Anti A
O |0|0 — Anti A & Anti B
AB |A|B AB —

 Antigen of blood group is called agglutinogen which are present on the surface of RBC. Anti-
body of blood group is called agglutinin.

Rh Factor:
 Rhesus factor.
 Discovered by Landsteiner and weiner in Macaca rhesus (Rhesus monkey).
 Father of ABO blood group Landsteiner.
 Rh factor is also called D Antigen it acts as a antigen.
 D antigen is also present on outer surface of RBC.
 Individual that have Rh factor is called Rh positive.
 GENETICS 9

 Population of Rh positive individuals is 85% in world.

 In India Rh positive is 93 to 95% people.
 Rh incompatibility occurs when mother is Rh negative and baby is Rh positive.
Death of new born baby due to Rh factor incompatibility is known as Erythroblastosis
foetalis or HDN (Haemolytic Disease of New Born).
 Isoalleles: They are alleles producing similar phenotypes. Isoalleles are distinguishable with
change in biochemicals, temperature, pH, humidity, etc , IA1, IA2, IA3.
 Pseudoalleles : Closely placed genes producing related phenotypic effect which are distin-
guishable only through a rare crossing over, e.g., dominant star and recessive asteroid eye
traits in Drosophila.
INTER-GENIC OR NON-ALLELIC INTERACTION
1. LETHAL GENES (2 :1 instead of 1 : 2 :1 or 3 :1): (Pleiotropic Effect of Genes):
 Some genes produce a broad spectrum of phenotypic changes, so that a gene has multiple
action. This is called pleiotropy.
 Lethal genes usually have pleiotropic effect.
 First discovered by Cuenot gene that causes the death of organism in homozygous condition.
 Absolute lethal gene causes the death of organism is embryonic life.
 Lethal genes exert their lethal effect at different times and at different stages in the life cycle.
Some cause death of the zygote of the early embryo.
 Others have their effect in later stages, while some lethals have a delayed effect.
 Lethal genes are quite common and widespread among plant and animals.
 Albino condition in corn plants, soyabean, maize and in Antirhinum is found to be lethal.
 In Drosophila, the genes for curly wings, plum eyes and stubble bristles are lethal.
A. DOMINANT LETHALS :
 It is lethal in homozygous condition and produce some defective or abnormal phenotype in het-
erozygous condition.
e.g., (i) Yellow Lethal in Mice :
 Cuenot found that the yellow mice never breed true. Whenever the yellow mice were crossed
with yellow mice, always yellow and agouti were obtained in the ratio of 2 :1.
e.g., (ii) Creeper Lethal in Chickens :
 The dominant gene C in chickens is responsible for the development of some abnormal chick-
ens which are commonly called ‘creepers’.
 These birds have short, crooked legs.
 When these creepers were mated, the creepers and normal appeared in the ratio of 2 :1 instead
of 3 :1. It means the creepers are heterozygous Cc and the missing 1/4th individuals were CC.
 The creeper gene produces general retardation of growth in the embryo and this effect is maxi-
mum at limb bud stage.
 In homozygous state, it produces such gross deformities that the homozygous offspring die
during incubation.
e.g. (iii) Lethals in Cattle : ‘Bulldog calves’
e.g. (iv) Brachyphalangy:
 Persons have short fingers apparently having two joints in their fingers, the middle bone being
greatly shortened and often fused with one of the other two bones of the finger.
e.g. (v) Inheritance of Sickle - cell Anaemia in Man :
 The disease is caused by a gene (Hbs) which is lethal in homozygous condition but has a slight
detectable effect in the heterozygous condition, producing sickle cell trait.
 The homozygous for the gene (HbVHb8) generally die of fatal anaemia.
 The heterozygotes or carriers for Hbs, (i.e., HbA/Hbs) show signs of mild anaemia as their
R.B.C. become sickle-shaped in oxygen deficiency.
e.g. (vi) Huntington’s Chorea in Man :
 The gene express itself even when a single dominant allele is present.
 The person suffers from muscular failure, mental retardation and finally death.
 Huntigton’s disease does not express itself before the age of 30.
 GENETICS 10

e.g. (vii) Epilopia Lethal in Man :

 This gene causes death in the early stages of life even in heterozygous condition.
 The dominant lethals that produce lethality at an early age in life are not detectable in the popu-
lation.
B. RECESSIVE LETHALS :
 The recessive lethals produce lethal effect only in homozygous condition.
 Their heterozygotes are normal.
e.g. (i) Tay Sach’s Lethal:
 The recessive lethal gene for Tay Sach’s disease causes death of young children only in ho-
mozygotes which are unable to produce enzymes needed for normal fat metabolism.
 The accumulation of fat in nerve sheaths hampers transmission of nerve impulse leading to poor
muscular control and mental deficiency.
 Tay Sachs disease kills the carrier in infancy.
e.g. (ii) Hydrocephaly in mouse :
 In homozygotes, the gene causes abnormal growth of cartilage during embryonal develop-
ment.
 This leads to irregularly formed skull and brain and accumulation of cerebrospinal fluid.
 Such homozygotes do not survive, while their heterozygotes are apparently normal.
e.g. (iii) In maize, rice Pearl Millet, etc. a recessive gene for nonformation of chlorophyll is
lethal in homozygous state.
 A cross between two carriers (Cc) yields all the green (CC or Cc). Albinos (cc) die seedling
stage.
e.g. (iv) In snapdragon selfing of golden variety (variegated) produces golden and green plants
in the ratio of 2 :1.
C. CONDITIONAL LETHALS :
 The genes which may be normal to the individual in a particular environment may prove to be
lethal when environment is changed.
e.g. (i) In Drosophila pseudo-obscura, the flies live normally at a temperature at 16.5°C but
when it is raised to 25°C the flies began to die.
e.g. (ii) In poultry a recessive gene causes feathers to break off. The chickens homozygous for
this gene, are featherless.
 If these are kept in relatively warm environment, they survive but if temperature falls bellow opti-
mum, the featherless chicken die.
 The individual dies in embryonic state in absolute lethality. The individual dies before reproduc-
tive maturity in sublethality. The individual dies after sexual maturity in delayed lethality.
2. EPISTATIC GENE (INHIBITING GENES) :
 Interaction between nonallelic genes (present at separate loci) in which one gene pair masks,
inhibits or suppresses the expression of other gene pair.
 The gene that supresses the expression of other gene is called inhibiting or epistatic factor
and the gene which is prevented from exhibiting itself is known as hypostatic.
 Epistasis is similar dominance and recessiveness, but in epistasis two pairs of genes are in-
volved.
 They occupy two different loci. So while dominance involves intragenic or interallelic gene
suppression, the epistasis involves intergenic suppression.
 Epistasis is of three types -
(A) Dominant (B) Recessive (C) Dominant - recessive.
A. Dominant Epistasis (Ratio = 12:3:1 or 13 : 3 ) : A dominant epistatic allele suppresses the
expression of a nonallelic gene whether the latter is dominant or recessive.
e.g. (i) Fruit Colour in Cucurbita or Summer Squash (Ratio = 12 : 3 :1)
 In cucurbita pepo when white fruit plant crossed with the green fruit plant then we obtain only
white fruit plant in F1 generation through the self pollination.
 When we obtain the F2 generation through the self pollination. Phenotypic ratio between white
yellow and green plant is 12 : 3 :1.
 GENETICS 11

White fruit (WWYY) × Green fruit (wwyy)

F1  White (WwYy) (Selfing)
White Yellow green
F2  12 3 1
 Fruit colour in cucurbita pepo is controlled by two different gene.
 These genes are located on different chromo some and called non allelic gene.
e.g. (ii) In Cholam (Sorghum caudatum) the grains can be pearly (shining and transluscent) or
chalky (opaque or salt white) due to dominant and double recessive alleles of gene Z (Z -, zz).
B. RECESSIVE EPISTASIS (RATIO = 9:3:4):
 Epistasis due to recessive gene is known as recessive epistasis.
 Epistatic gene suppresses the expression of nonallelic gene only when it is in homozygous
recessive state.
e.g. (i) Coat Colour in Rodents (Mice):
 Ancestral coat colour in mice is greyish as in wild mice.
 Agouti coat colour is due to the presence of the two pigments in the fur.
 Albino coat colour is due to absence of pigment and is recessive homozygous.
 Black coat colour is due to absence of yellow pigment from agouti pattern.
 These are recessive to agouti.

Black (CCaa) × Albino (ccAA)

Agouti (CcAa)

Agouti Black Albino

9 3 4

e.g. (ii) Epistasis in Drosophila :

 In Drosophila, two recessive wing mutants :
(1) Aperous (ap) produces small stubby wings (instead of normal transparent ones).
(2) Cubitus interruptus (ci) causes a small interruption in fourth longitudinal vein.
 The F2 progeny of these two mutants in a hybrid cross produces 9 normal : 3 interrupted vein
: 4 apterous wings.
e.g. (iii) Epistatic Genes in Man :
 In ABO blood group system of man, the formation of antigens A and B is controlled by two pairs of
genes:
(1) Gene H controls the production of precursor substance H.
(2) Gene IA converts the precursor-H into antigen A.
(3) Gene IB converts the precursor-H into antigen B.
(4) Persons having blood group O and recessive allele i are unable to convert precursor-H.
 In them precursor-H remains as such in the blood and can be agglutinated by anti -H.
 Majority of person are either HH or Hh and produce precursor -H.
 Only a few persons are hh.
 They are unable to synthesis precursor -H.
 Such persons whether belonging to blood group A, B or AB do not form antigen -A or antigen -B
and their RBC are not agglutinated by anti -A, anti -B or anti -H. Persons having hh genotype are
described to show Bombay phenotype.
 This phenotype is the result of recessive epistasis of recessive gene h over gene lAor IB.
C. DOMINANT - RECESSIVE EPISTASIS : Eg. Coat Colour in Chickens (Ratio = 13:3):
3. COMPLEMENTARY GENES (Ratio = 9 : 7) :
 If two genes present on different loci produce the same effect when present alone but interact to
form a new trait when present together, they are called complementary genes.
e.g. (i) Flower Colour in Sweet Pea {Lathyrus odoratus):
 Two white varieties of sweet pea control independently by two different genes (C-pp and ccP-).
 When crossed they form purple flowers (C-P-) in F, generation. Selfing of hybrids gives a dihy-
 GENETICS 12

brid F2 ratio of 9 purple (C-P-) and 7 white (ccpp, ccp-, C-pp).

 Dominant gene C produces an enzyme that converts the raw material for flower pigmentation
into chromagen. Dominant gene P produces another enzyme that oxidises chromagen into purple
coloured anthocyanin.
e.g. (ii) Seed colour of maize :
e.g. (iii) Deaf-mutism in man :
 The normal hearing and speech in man develops as a result of interaction between dominant
gene A and B.
 Whenever a person is homozygous for either of the two recessive alleles (i.e., either AAbb or
aaBB), the is deaf-mute.
4. SUPPLEMENTARY GENES (Ratio = 9:3:4):
 Supplementary genes are two nonallelic genes in which one type of gene produces its effect
whether the other is present or not and the second (supplementary) gene produces its effect only
in the presence of the first usually forming a new trait.
e.g. In Cholam (Sorghum caudatum) a gene produces blackish purple glume colour in domi-
nant state (P-) and brown colour in recessive state (pp).
 A nonallelic supplementary gene Q-interacts with dominant P-gene to form reddish purple glume
colour.
 It has no effect on the recessive nonallele (pp Q-is known).
 A cross between PPqq (Blackish Purple) and ppQQ (brown) yields reddish purple glume (PpQq)
and F2 dihybrid ratio of 9 reddish purple : 3 blackish purple : 4 brown.
5. COLLABORATIVE SUPPLEMENTARY GENES OR NOVEL PHENOTYPES (9:3:3:1):
 In collaboration two gene pairs which are present on separate loci but influence the same trait,
interact to produce some totally new trait or phenotype that neither of the genes by itself can
produce.
e.g. Comb Shape in Chicken :
 In poultry, formation of rose comb is controlled by dominant gene R-, pea comb by dominant
gene P-, single comb by recessive pp, rr or both.
 When both the dominant genes (Pea and Rose) occur together, walnut comb (P-R-) is formed.
 A cross between pure pea-combed (PPrr) and pure rose combed (ppRR) birds yields walnut
combed birds which on inbreeding form 9 walnut: 3 pea : 3 rose : 1 single.
 Walnut comb represented the novel phenotype or new phenotype.
6. DUPLICATE GENES OR PSEUDOALLELES OR DUPLICATE DOMINANT EPISTASIS (Ra-
tio = 15:1):
 When two pairs of genes determine the same or nearly same phenotype so that either of the two
genes is able to produce the character in question, these are said to be duplicate factors or
duplicate genes.
 The recessive phenotype develops only when gene pairs are double recessive.
 Duplicate genes are two (or more) independent genes found on different chromosomes which
produce the same or nearly similar phenotypic effect in the dominant state, producing same
intensity of effect even when present together, so that dominant phenotype is more abundant.
e.g. (i) Fruit Shape in Shepered’s Purse :

Triangular (TT DD) × Elongated (tt dd)

Triangular Tt Dd

Triangular Elongated
15 1
e.g. (ii) Endosperm Colour in Maize :
7. POLYMERIC OR ADDITIVE GENES :
e.g. Inheritance of Fruit Shape in Summer Squash (9:6:1):
 In Cucurbita pepo, the fruit shape in controlled by two pairs of genes.
 GENETICS 13

Disc-shaped (AABB) × Long Fruits (aabb)

Disc shaped AaBb

Disc shaped Spherical Long

9 6 1
8. PLEIOTROPIC GENES :
 Genes which have multiple phenotypic effect or which influence more than one trait.
 A pleiotropic gene often has a more evident effect on one trait called major effect and less
evident effects on other traits called secondary effects.
 When a number of related changes are caused by a pleiotropic gene, the phenomenon is called
syndrome, e.g., sickle cell anaemia.
 Sickle cell is autosomal hereditary disorder due to Hbs instead of HbA (normal). Both are codomi-
nant. HbA produces normal haemoglobin while Hbs forms haemoglobin in which (3-chain has
amino acid valine instead of glutamic acid in 6th position. This is major effect.
 Under conditions of oxygen deficiency (at high altitude, vigorous exercise) 6-valine develops
hydrophobic bonds with complementary sites on a adjacent strands forming a helical polymer of
upto 14 strands.
 It changes erythrocyte from circular to sickle cell form (secondary effect).
 Membrane permeability also changes.
 Sickle celled erythroyctes clog blood capillaries, obstruct blood flow causing starvation of tis-
sues, undergo haemolysis and cause blood clotting.
 Sickel celled carriers have advantage over normal individuals is malaria infested areas as the
erythrocytes resist damage from the parasite.
e.g. (i) In Garden Pea, single gene controls flower colour, seed coat colour and red spots in
the axils of leaves.
e.g. (ii) In Drosophila, single gene controls Eye colour, Size of wings, Fertility and Shape of
Spermatheca.
9. MULTIPLE FACTORS OR GENES :
 The expression of a single specific trait is governed by the several genes, through a series of
enzyme catalysed biochemical reactions, each controlled by a separate gene.
 In such cases each biochemical reaction involves step wise conversion of one substance called
precursor into another, called the product which acts as a precursor for the next step till the
formation of final product called the end product.
 All these steps of a biochemical reaction constitute biosynthetic pathway.
e.g. Biochemical Pathway of Tryptophan in E. coli:
 In bacterium, Escherichia coli the synthesis of tryptophan from chorismic acid occurs in four
biochemical reactions each catalysed by separate enzyme produced by a separate gene.

Gene G1 Gene G2

Enzyme E1 Enzyme E2

Chorismic Acid —— Anthranilic Acid —— Carboxyphenylamino deoxyribulose phosphate

(precursor) (CDRP)
Enzyme E3

Gene G3

Gene G4

Enzyme E4

Tryptophan —— Indole Glycerol Phosphate

(End product)
 GENETICS 14

Monogenic Inheritance Polygenic Inheritance

(i) Each gene control one character one More then one gene controlled character one
character control by one gene. or more then one gene for one character
(ii) Mendal (Father of Monogenic Inheritance) Kolreuter (Father of Polygenic Inheritance)
Eg. – AA BB CC – Aa Ba Cc
(iii) Intensity of character does not depend on Intensity of character depends on number of
number of dominant factor this type of dominant allele this type of inheritance called
inheritance is called qualitative inheritance. Quantitative Inheritance.
eg. (1) Kernal colour of wheat
Monohybrid – 3 : 1 Red Dark Medium Light White
Dihybrid – 9 : 3 : 3 : 1 1 : 4 : 6 : 4 : 1
Trihybrid – 27 : 9 : 9 : 3 : 3 : 3 : 1 (2) Human skin colour
Studied by Daven port controlled by three
genes Negro Dark Lightdark Intermediate
Light Very light White
1 : 6 : 15 : 20 : 15 : 6 : 1

QUALITATIVE INHERITANCE :
 Qualitative inheritance is that type of inheritance in which one dominant allele influences the
complete trait so that two such alleles do not change the phenotype.
 Monogene is a gene in which one dominant allele controls the complete or qualitative expres-
sion of a trait.
QUANTITATIVE/POLYGENIC INHERITANCE/ MULTIPLE FACTOR INHERITANCE/ MET-
RIC TRAIT INHERITANCE :
 Inheritance in which the complete expression of a trait is controlled by two or more genes in
which a dominant allele of each gene contributes only a unit fraction of the traits and the total
phenotypic expression is the sum total or additive or cumulative effect of all the dominant
alleles of genes or polygenes.
 Polygene, is a gene in which each dominant allele produces a unit fraction of expression of a trait.
 The complete trait develops only by the cumulative effect of all homologous and nonhomologous
dominant alleles influencing that trait.
 The first scientific study of quantitative inheritance was carried out by Nilsson-Ehle on kernel
colour in Wheat. Before that the study was undertaken by Kolreuter on Tobacco and Galton on
human beings.
e.g. (i) Kernel Colour in Wheat:
 Work of Swedish geneticist, H.Nilsson Ehle on kernel colour in wheat provides the first example
of polygenic inheritance and proposed that three pairs of genes were responsible for grain colour
in wheat.
 These are represented as Aa, Bb and Cc, the genes ABC being dominant and abc recessive.
 A red kernelled Wheat variety crossed with white kernelled Wheat variety yields F1 individuals
with medium coloured kernels.
 On self breeding, the F2 generation possesses 1/16 red kernelled plants : 4/16dark kernelled : 6/
16 medium colourd : 4/16 light coloured : 1/16 white kernelled.
 This is possible only when the kernel colour is governed by two polygenes with dominant alleles
contributed to the intensity of colour-AA BB (red), Aa BB or AABb (dark), AaBb/AAbb/aaBB (me-
dium), Aabb/aaBb (light) and aabb (white).
e.g. (ii) Skin Colour in Man :
 Studied by Davenport, according to him human skin colour (melanin) is controlled by three
pairs of polygenes, A, B and C.
 Negro/very dark/black colour is due to presence of all the six dominant contributing alleles AABBCC.
 Causasian/very light/white colour is due to all the six recessive noncontributing alleles aabbcc.
 GENETICS 15

 A marriage between the two yields intermediate or mulatto (AaBbCc) children.

 Marriages between mulattoes can produce 7 phenotypes (27 genotypes) -1 very dark/black :
6 dark: 15 fairly dark : 20 intermediate/mulatto : 15 fairly light: 6 light: 1 very light/white.
 When a graph is plotted for the progeny, it appears to be bell-shaped with maximum number of
intermediate types and progressively lesser number towards the two extremes.
e.g. (iii) Inheritance of Fruit Size in Tomato
e.g. (iv) Spotted Colour in Cattle :
 In cattle, solid colour is dominant to spotted colour pattern.
 The solid colour is due to dominant gene S, where spotting in ss individuals depends upon a
large series of polygenes.
e.g. (v) Leukocyte Count in Mouse :
 Chal, has shown that the difference between high and low leukocyte count in mouse is a poly-
genic trait.

CALCULATION OF PHENOTYPES BY BINOMIAL EXPANSION :

 The normal distribution of phenotypes that results from the segregation of independent genes
having quantitative effect can be expressed mathematically by the binomial expansion.
 We obtain the bionomial expansions as given below:
(a + b)1 - a+b
(a + b) 2
- a2 + 2ab + b2
(a + b) 3
- a3 + 3a2b + 3ab2 + b3
(a + b) 4
- a4 + 4a3b + 6a2b2 + 4ab3 + b4
 If n is the number of contributing dominant alleles then the ratio like 1 : 4 : 6 : 4 : 1 or 1 : 6 : 15 : 20
1 1 n
: 15 : 6 : 1 can be obtained by the expansion of binomial equation [ + ] .
2 2
 Thus in the case of two pairs of multiple genes n = 4 and in the case of three pairs of multiple
genes n = 6.
PEDIGREE ANALYSIS
 It is a chart which show the record of inheritance of certain characters for two or more then two
generations.
 In pedigree female represented by (circle) O and male represented by (square) .
 The horizontal line marriage line vertical line sibling line.
 Trait under the study represent by (solid) symbol.
 Carrier represented by the or
 Above chart show holoandric inheritance and trait present of Y chromosome. More than > 2/3
dominant Less than 1/3 recessive. Above indicate dominant trait is under the study.
 Above pedigree show that trait under the study reappears in the same sex of third generation.
 So females are carrier and criss - cross inheritance the trait under the study is present in X
chromosome. The criss-cross inheritance only appear in sex linked chromosome.

CYTOPLASMIC INHERITANCE OR EXTRACHROMOSOMAL INHERITANCE

 Discovered by Correns in Mirabilis jalapa
 Oscar Hertwig told that nucleus contains the units of inheritance. But Dr. Sanger and his
collegues suggested the possible role of cytoplasm in certain cases of inheritance.
 It is also known as extranuclear inheritance.
 The genes or factors controlling cytoplasmic inheritance are called plasma genes or extra-
nuclear genes.
 They are collectively called plasmon.
 Plasma genes occur in plastids, mitochondria, plasmids and some special particles like kappa
particles, sigma particles etc.
 In higher organisms cytoplasmic inheritance is also called maternal inheritance because the
zygote receives most of its cytoplasm from the ovum.
 Therefore, cytoplasmic inheritance is usually uniparental.
 GENETICS 16

 Reciprocal crosses do not yield the same results.

 Maternal inheritance differs from predetermination and dauermodification.
 Predetermination is the effect of mother’s genes on the characters of offspring through the
cytoplasm of the egg without involving plasmagenes.
 Dauermodification is phenotypic change caused by chemicals and other environmental factors
which persist for a few generations being transmitted through egg cytoplasm.
e.g. (i) Maternal Influence on Shell Coiling in Snail Limnaea :
 Water Snail (Limnaea peregra) has two types of shell coiling, dextral (controlled by dominant
nuclear allele D) and sinistral (controlled by double recessive nuclear allele d).
 However, the shell of the progeny is coiled according to the effect present in the cytoplasm of the
mother. For example a cross between DD (male) and dd (female) yields offspring Dd but with
sinistral coiling.
 Breeding between two such individuals yields DD, Dd and dd in! the ratio 1:2:1 but all of them
are with dextral coiling.
e.g. (ii) Kappa Particles :
 Sonneborn found that Paramecium aurelia has two strains, killer and sensitive.
 The killer strain contains self duplicating kappa particles which when present in strength (mini-
mum 400) secrete paramecin capable of killing sensitive strain.
 Presence of kappa particles is generally controlled by a dominant gene K present in macro-
nucleus.
 Kappa particle are composed of deoxyribonucleic acid.
 These are self-duplicating and arise de-novo.
 These can mutate. Conjugation may produce Kk of sensitive strain or killer of kk genotype.
 Sustenance of kappa particles over the generations requires dominant K gene.
e.g. (iii) Male Sterility in plants :
 In many strains of certain plants (e.g., Wheat, Maize, Cucumber) the pollen grains fail to ma-
ture even when all their chromosomes are replaced by male fertile lines (Rhoades, in Maize)
showing that sterility is due to cytoplasm though it is also controlled by a nuclear gene (rrfor
sterility).
e.g. (iv) Inheritance of Sigma Particles in Drosophila :
 Drosophila flies are sensitive to CO2 and they can be immoblized by exposing them to CO2.
 L. Heritier and Teissier discovered that some strains of Drosophila are much more sentisive to
CO2 than the normal and are affected by much smaller concentrations.
 If these are exposed to higher concentration of CO2 these soon become anesthetised and finally
killed.
 Reciprocal crosses between sensitive and normal Drosophila produce different results.
 When females of the sensitive race are crossed to normal males, all the offspring are sensitive.
e.g. (v) Breast Tumour in Mice :
 It is was studied by Bitiner.
 In a strain of mice almost all the males and females were susceptible to cancer of breast and
developed breast cancer.
 From this strain females were crossed with normal males without cancer susceptibility. About
90% of the offspring of such a cross developed breast tumour.
 When males from this tumour-susceptible strain were mated to normal females all the offspring
were normal. But recent evidences indicate that this character is transmitted through mother’s
milk and known as “milk factor” .
 Breast tumour is caused due to the presence of virus in milk.
e.g. (vi) Plastid Inheritance in Mirabilis jalapa or 4 ‘O clock plant or Gul e bans :
 Colour of branch in Mirabillis jalapa controlled by plastogene.
 Cytoplasmic inheritance is also called maternal inheritance.
 Cytogene are provided to the offspring by female only so cytoplasmic inheritance is called mater-
nal inheritance.
 Zygote receive cytoplasm only through female gamete.
 GENETICS 17

Green branch O × Pale branch O Green branch O × Pale branch O

+ +
F1  Green branch F1  Pale branch

e.g. (vii) Plastid Inheritance in Oenothera or Evening primrose :

e.g. (viii) Extranuclear Inheritance by Mitochondria :
 The control of mitochondrial genes on the inheritance of certain characters in unicellular organ-
isms such as Saccharomyces cerevisiae, Neurospora crassa, Aspergillus nidulans and
Paramecium aurelia was demonstrated by B. Ephrussi and collaborators.
e.g. (ix) Inheritance of plasmid :
 Extra chromosomal DNA in the bacteria is also example of maternal inheritance. Inheritance of
Male sterlity gene in the male parent is the example of cytoplasmic inheritance.
Male (Fertile) × Female (That have male sterlity gene)

F1 Male sterile
GENES AND CHROMOSOMES
 H.J. Hammerling studied functions of Nucleus.
 Hammerling worked on Acetabularia, which is unicellular alga, with lobed holdfast containing
nucleus, a stalk and a cap.
 Cap is pointed tip in Acetabularia crenulata and rounded tip in A. Mediterranea.
 Removal of cap allowed the nucleated part to regenerate it while the enucleated cap region
degenerated after some growth.
 Stalk of one species grafted on the nucleated part of the other produced an intermediate cap.
 If this cap is removed a new cap regenerates but its shape is according to the species of nucle-
ated holdfast. Grafted nucleated parts of both the species produce intermediate cap.
 Carmine stain obtained from Cochineal Insect (Coccus cacti) is used for nucleus.
 Haematoxylin obtained from heartwood of Haematoxylon campechianum used for chromo-
somes.
 Strasburger told that nuclei develops from pre-existing ones.

CHROMOSOME THEORY OF INHERITANCE :

 Proposed in independently by Sutton and Boveri.
According this theory-
 Chromosomes are vehicles of hereditary information and expression as Mendelian factors or
genes are present over them.
 Nucleus possesses chromosomes.
 Chromosomes, like hereditary factors are particulate structures.
 Somatic diploid cells posses two chromosomes and a gamete has only one chromosome.
 Paired condition of chromosomes/Mendelian factors is restored during fertilization.
 Specific chromosomes (sex chromosome) determined sex of certain organisms.

CHROMOSOMES:
 Chromosomes discovered by Hofmeister in 1848 in pollen mother cell of Tradescantia (widow’s
tear).
 Chromosome term is given by Waldayer.
 Plant cell has long chromosome in comparison to animal cell.
 Monocot have long chromosome in comparison to dicot.
 Trillium (32 m) have longest chromosome in comparison to normal chromosomes.
 In prophase stage of cell division chromosome become small & thick due to coiling and uncoil-
ing of protein.
 Maximum number of chromosome (2n = 1262) in plant Adder’s tongue fern (Ophioglossum
reticulatum).
 GENETICS 18

 Minimum number of chromosome are found in plant in Haplopappus gracilis (2n = 4)

Number of chromosomes in Animals
(i) Ascaris megalocephala (2n = 2)
(ii) Rabbit (2n = 44)
(iii) Gorilla & Chimpanzee (2n = 48)
Mucur (Haploid) (n = 1)
Aulocantha (Radiolarian protozoan) (2n = 1600)
Bacteria and viruses are haploids.
STRUCTURE OF CHROMOSOME
 Each chromosome composed of two coiled threads called chromonema. Chromonema term is
given by Vejdowsky.
 Coiling in the chromenema are two types.
(i) Plectonemic (ii) Paranemic
 Plectonemic coiling are seen in the mitotic chromosomes.
 Paranemic coiling are seen in the meiotic chromosomes.
 Ultrastructure of chromosomes studied in the metaphase stage.
 The best study of Karyotype in Anaphase stage. Chromosomes present in semisolid matrix.
Matrix composed of protein.
 Outermost layer of matrix is thin called pellicle.
 Pellicle is the protein membrane not the unit membrane.
 Basically the chromonema is made of nucleosome chains.
 They are formed by complexing of DNA with histone proteins.
 Nucleosome are oblate structures having a histone octamer (nu body) of four types of histone
molecules (2 each) - H2A, H2B, H3 and H4, with their charged parts towards outside and hydro-
phobic areas towards centre.
 The charged parts help DNA to coil over nu body (1.75 coils).
 DNA strand between two nucleosomes is called linker/interbead DNA. It bears H1 histone.
 There are two view points about the arrangement of nucleosome chain during formation of
chromonema.
(i) Solenoid Model (ii) Radial loop model
(i) Solenoid Model: Finch and Klug.
 Nucleosome chain has a diameter of 100 - 125A. It is rolled like a cylindrical coil of wire called
solenoid. Solenoid is about 300A in diameter.
 It is further coiled into super-solenoid or chromonema of 2000-4000 A thickness.
(ii) Radial Loop Model: (Laemmili)
 A chromatid or chromosome has a core of scaffold proteins.
 It bears a number of lateral loops of 300 A thickness that are themselves formed of solenoid of
nucleosome chains.
 The loops are spread in interphase nucleus. They get folded and compacted to form chromatid.
Scaffold proteins also come closer during chromatid formation. Two types of constriction present
in the chromosomes.
(1) Primary constriction:
Geneticist use the term Centromere and Cytologists call it as Kinetochore.
 It is called centromere.
 Centromere is the specialized and essential part of chromosome.
 Centromere is the achromatic; part of chromosome.
 At the site of centromere chromosome remain uncoil. Each chromonema attach with the disc
like protein at the site of centromere.
 This lameller plate is called Kinetochore.
(2) Secondary constriction :
 Secondary constriction is the nonessential part of chromosome.
 Secondary constriction are of two type -
(i) Secondary constriction -1
 GENETICS 19

Satellite arise from secondary constriction -1 also known as trabant.

 It is also called NOR (Nucleolar organiser Region).
 It is made up of Heterochromatin.
 NOR form the nucleolus and related with the nucleolus.
 NOR found in the 13,14,15, 21, 22 chromosome.
 Chromosome with setellite is known SAT chromosome.
(ii) Secondary constriction - II
 It is metabolically inactive part- It is related with the 1,10,13,16 chromosome.
 Part of chromosome beyond the secondary constriction -1 called satellite body.
 Satellite body have repetetive genes.
 These repetetive gene does not synthesize the mRNA.
 These are transcriptionally inactive. Chromomeres are present on the chromonema. Chro-
momeres are formed by the highly coiled DNA.
 Chromomeres term is given by Balbiani and Pfizer.
Denver system of classification of chromosomes : Chromosomes of human being divided
into seven groups.
Group A 1, 2, 3
Group B 4, 5
Group C 6, to 12, X
Group D 13,14,15
Group E 16,17,18
Group F 19, 20
Group G 21, 22, Y
(i) Metacentric - Centromere is at centre Eg.- A, G, E16, Y.
(ii) Submetacentric - Centromere is near the centre Eg.- B, C, F, X, E1718
(iii) Acrocentric - When centromere is present just below the tip. Eg.- D and F
GIANT CHROMOSOMES :
There of two types :
1. Polytene chromosome or Salivary Chromosome :
 Balbiani discovered in the salivary gland of Drosophila.
 Polytene term given by Koller. (Poly - Many, Tene - Thread)
 No. of chromonema with the 512 to 16,000.
 Polytene chromosomes of Chironomonas consist of 16000 chromonemata and in Drosophila it
is composed of 1000 chromonemata.
 One chromonema is made up of one DNA molecule.
 Polytene chromosomes are long upto 2000 micron.
 Polytene chromosomes are clearly seen in the Interphase.
 Polytene chromosome consist of dark band and light band.
 Dark band with more histone protein. These are formed by Polyteny ( type of endomitosis)
 Polytene chromosomes contains Balbiani rings/Chromosome puffs.
 Balbiani rings form messenger RNA.
 These messenger RNA synthesize enzyme that are related with metamorphosis.
 Ecdysone (Moulting hormone) stimulate formation of Balbiani rings.
 Polytene chomosome related with metamorphosis.
 Polytene chromosomes are formed by the endomitosis. Before endomitosis, pairing of homolo-
gous chromosome occur.
2. Lampbrush Chromosome or Diplotene Chromosome :
It is knowns as test tube brush chromosome. It is the largest chromosome.
 First seen by Flemming. ,
 Described by Ruckert
 These chromosomes are found in the oocytes of shark and oocyte of amphibians, reptiles,
birds prototheria, mammals.
 It is the largest chromosome.
 These are related with formation of yolk (vitellogenesis).
 GENETICS 20

 Size of these chromosomes are upto 5900 m.

 These have large sized chromonema.
 These chromosomes are more distinct in diplotene stage.
 Lateral loops are present in the lampbrush chromonema.
 These loops synthesize m-RNA, m- RNA synthesizes enzymes which are related with vitello-
genesis.
Other types of Eucaryotic Chromosomes :
(a) B-chromosomes : Discovered by Wilson, also known as supernumerary/ Accessory Chro-
mosome or extra chromosomes. Heterochromatic, smaller than normal and show slower repli-
cation. B-chromosomes may get lost. In excess, they may result in loss of vigour.
(b) m-Chromosome : They are minute (0.5 urn) but functional chromosomes which occur in some
bryophytes and insects.
(c) L - Chromosomes : They are found only in germ-line cells which are eliminated during formation
of somatic cells. In Mainstor36 chromosomes in female and 42 chromosomes in male are elimi-
nated during development of somatic cells. They are also called E - chromosome or Elimi-
nated chromosome.
(d) Sex Chromosome: Whose presence, absence of particular from determines the sex of the
individual in unisexual or dioecious organisms, e.g., XX - XY, XX-XO, ZZ-ZW, ZZ-ZO. Also called
Idiochromosomes/allosomes.
 These chromosomes also control a number of morpho-physiological traits called sex-linked char-
acters.
 Chromosomes other than sex chromosomes are known as autosomes.
 They determine morpho-physiological traits of the organisms which are similar in both the sexes
and are not sex-linked.
 Two sex chromosomes in an individual may be morphologically similar/homomorphic e.g. /XX
or different/heteromorphic (e.g. XY).
 The morphologically different chromosome is androsome. (e.g. Y-chromosome)
 Male determining in same organisms (e.g. mammals) and gynosome or female determining in
others (e.g., W-chromosome in birds).
 Individuals having homomorphic sex chromosoms produce similar gametes.
 They are therefore, homogametic (A + X, A + X in human females). Individuals with heteromor-
phic sex chromosomes produce two types of gametes.
 They are heterogametic (A + X, A + Y in human males).
 Some sex chromosomes are heterochromatic (Y-chromosome in males and one X-chromo-
some in females) and are called heterochromosomes/heterosomes.
 Other chromosomes are then called euchromosomes though the latter term is also applied for
autosomes.
For the explanation of structure of chromosome many theories are given.
1. Multistranded Theory :
 Given by Stieffenson.
 Each chromosome consist of two chromonema and each chromonema composed of 16 mol-
ecules of DNA. It is a rejected theory.
2. Unineme Theory :
 Most acceptable theory. Given by Hansris.
 According to this theory each chromosome composed of two chromonema and each chromo-
somes composed of one molecules of DNA. Supported by meiosis and crossing over.
On the basis of position of centromere, chromosomes are of many types-
(i) Metacentric - When centromere is present at centre of chromosome (shape v/A’ike)
(ii) Submetacentric - When centromere is present slightly away from the centre (shape ‘L’ like)
(iii) Acrocentric - When centromere is present just below the apex or crown (shape “j1 like)
(iv) Telocentric - When centromere is present at the terminal (shape ‘ i’ like) is also known as
telomictic or T. Chromosome.
 In humans chromosomes are of 3 types metacentric , submetacentric and Acrocentric.
 GENETICS 21

SEX DETERMINATION
 The phenomenon of Sex-differentiation on the basis of morphological, Physiological,
behaviourial aspects is known as Sexual dimorphism.
 Biologically, sex in an aggregate of those morphological, physiological and behaviroural qualities
that differentiate the organism producing eggs from those organisms producing sperm.
 The organisms producing eggs are known as female and the those producing sperms are males.
 The sex behaves as a Mendelian character.
 Its inheritance follows law of segregation.
(I) ENVIRONMENTAL FACTORS IN SEX DETERMINATION :
 Environment determines sex in some potentially hermaphrodite animals. Marine mollusc Crepidula
becomes female when reared alone but produces male in company of an adult.
 Marine worm Bonellia turns female in isolation or attached to substratum.
 The newly hatched worm develops into male if it happens toget attached to proboscis of female.
Such a male enters the female and stays there as a parasite.
(II) NON ALLOSOMIC SEX DETERMINATION :
 In bacteria sex determination is controlled by feritility factor, called F-factor, located on a plas-
mid.
 Lederberg and Tatum found that male or donor cells possess a fertility factor and are desig-
nated as F+ cells while the females or recepient cells as F–.
 During conjugation the F factor may be transfered to recepient cells converting them into F+ or
donor cells.
(III) CHROMOSOME THEORY OF SEX DETERMINATION OR ALLOSOMIC SEX DETERMI-
NATION :
 In most animals and plants sex is determined sex chromosome /allosomes.
 X-body or X-chromosome discovered by Henking when he found that in the testes of male bug
one chromosome has no homologue.
 Stevens discovered Y-chromosome.
 Mc Clung observed that in Squash Bug (Anas), male has 21 chromosomes while female has
22 chromosomes.
 He stressed that X-chromosomes has role in sex determination.
 Wilson and Stevens put forward the chromosome theory of sex with X and Y chromosomes
being named as sex chromosomes.
(1) XX - XY technique or Lygaeus type :
 At first studied in milkweed bug, Lygaeus turcicus by Wilson and Stevens, So it is called
Lygaeus type.
(a) In Drosophila total number of chromosomes is 8 of which 6 are autosomes, common to both
male and female. The fourth pair is of sex chromosomes.
 In male is represented by XY i.e., karyotype of male Drosophila 6 + XY and in female XX i.e., 6 +
XX.
 Ova produced by female are all similar possessing 3 + X chromosomes, whereas the sperm
produced by male are 3 + X and 3 + Y in equal numbers.
(b) In Man total number of chromosomes is 23 pairs or 46.
In Male (man) 44 + XY
In female (woman) 44 + XX
 Sperm produced by male are of two types :
(a) 22 + X (Gynosperm): (This type is known as Gynosperm).
(b) 22 + Y (Androsperm): (This type is known as andorsperm)
 Whereas the ova all have 22 + X chromosomes.
 Y chromosome have a spacial type of gene TDF it is called Testes determining factor.
 This factor inhibit the development of mullerian duct. So female reproductive organs are not
form.
 Mullerion Duct form- Uterus and fallopian duct. Wolffian duct developes when mullarian duct
 GENETICS 22

inhibited and it form male reproductive organ.

 Wolffian duct forms testies & seminal vesicle. Found in mammals.
(c) In Melandrium plant (Garden pink) sex is determined by a pair of XY chromosoems just as in
animals.
 In Melandrium (Lychnis) the Y- chromosome is longer than X-chromosomes.
(d) In Coccinia indica the pistillate plants are 2A + XX and staminate plants are 2A + XY.
 The presence of Y-chromosome is essential for the sex has been varified by Prof. R.P. Roy and
his colleagues.
(2) XX - XO technique :
 Found in Ascaris, Cockroach, Grasshopper, True bugs
 In this method the females have two sex chromosome, XX while the males possess a single sex
chromosome, X.
 The female are homogametic (A + X).
 The males are heterogametic producing androsperms (A + 0) and gynosperms (A + X).
 Amongst angiosperms, Dioscorea sinuata has XX - XO sex complement.
(3) ZW-ZZ technique:
 Found in birds, some reptiles and fishes, the females (hens) have heteromorphic sex chromo-
somes and are hence hetergametic (A + Z, A + W). W - chromosomes determines the females
sex.
 The males have homomorphic sex chromosomes (ZZ) and are hence homogametic (A + Z). The
condition is just the opposite found in mammals. Fragaria eletior is the plant having ZW sex
determination.
(4) Haplo diplody method (Honey Bee Method or Hymenopteran type): Honey bee, wasps,
ants in fertilized egg - male drone in honey bee.
 It is haplold. Parthenogenesis occur.
 Parthenogenesis is development of embryo without fertilization.
 Female is diploid in nature. Fertilized egg develop into the female & worker of honey bee - sterile.
When Royal jelly is given. Then become queen. Queen - Royal Jelly (The secretion of subman-
dibular gland). Worker - Bee bread
(IV) QUANTITATIVE RATIO THEORY OF SEX DETERMINATION OR GENIC BALANCE THEORY
OF SEX:
 Given by Bridge.
 This theory is used in sex determination of drosophilla.
Total number of X chromosome
Sex Ratio =
No. of haploid sets of autosomes

Diploid Male
Triploid female 2A + XY
3A + XXX

AX AY
2A + XX 3A + XXX 3A + XXY
Triploid Female Intersex

A+X 2A + XX 2A + XY
Diploid female Diploid Male

2A + X 3A + XX 3A + XY
Intersex Super male
A + XX 2A + XXX 2A + XXY
Super female Diploid female
 GENETICS 23

S. No. No. of X-chromosome Set of Sex-index ratio Sex

autosomes (X/A)
1. XXX AA 1.5 super female Super female
2. Normal female
XXXX AAAA 1.0 Tetraploid
XXX AAA 1.0 Triploid
XX AA 1.0 Diploid
3. XX AAA .67 Intersex
XXX AAAA .75
4. X AA .50 Normal male
5. X AAA .33 Super male

Less then .5 = Super male, More then 1 = Super female

 The number of autosome also effect the sex ratio.
 According to genie balance theory sex determination in Drosophilla affected by autosome along
with the allosome.
 In this method we find out the sex ratio.
GYNANDROMORPHS IN DROSOPHILA
 In Drosophila, occasionally flies are obtained in which a part of the body exhibits female charac-
ters and the other part exhibits male characters.
 Such flies are known as gynandromorphs.
 These are formed due to misdivision of chromosomes.
 The zygote starts as female with 2A + 2X-chromosomes. One of the X-chromosomes is lost
during the division of the cell with the result that one of the daughter cells possesses 2A + 2X
chromosomes and the other 2A + x.
 If this event happens during first zygotic division, two blastomeres with unequal number of X-
chromosomes are formed.
 The blastomere with 2A + 2X - chromosomes develops into female half, while the second blas-
tomere with 2A + X chromosomes produces male half and the resultant fly is a bilateral
gynadromorph.
 Gynandromorphs may exhibit different proportions of male and female parts.
 These may be formed of several cell lines, each with different chromosome number.
 These are called sex-mosaics or chiamaeras.

SEX DIFFERENTIATION
 The sex determination theories of chromosomes and genie balance successfully apply to the
lower animals but in higher vertebrates and under certain conditions in invertebrates.
 The embryo develops some characters of the opposite sex together with the characters of its
own sex.
 The sex changes under specific circumstances.
 This is due to the hormones secreted by the gonads of that animal.
 The theory is based upon the observations of Crew in chicks.
 He found that a hen which laid fertile eggs, accidentally lost its ovary, stopped laying eggs, and
developed male comb, male plumage and became a cock. It finally functioned as male and
became father of two chickens.
 GENETICS 24

FREE MARTINISM
 Lillie and others found that where twins of opposite sex (one male and other female) are born,
the male is normal but female is sterile with many male characteristics.
 Such sterile females are known as free martins.
 It is due to effect of hormones of the male sex on the female.
 In cattle , the foetal membranes of the twins are fused in such a manner that they have a com-
mon circulation of blood.
 The female hormone is produced at a slightly later stage in the development and guides its
development towards females side. But since the twin have a common circulation and blood
passes form one twin into the body of other twin.
 The male hormone, which is produced slightly in advance of female hormone, enters the body
of female twin and before tha female hormone onsets the development of female characteristics,
female embryo is already differentiated under the guidanceof male hormones.
 As a result the developing female is sterile.

LINKAGE

 Exception of law of Independent assortment.

 Blixt Describe that the seven set of contrasting pair that is present on four pair chromosome.
 Linkage first seen by Bateson and punnet in Lathyrus odoratus (sweet pea) but linkage defined
by Morgan.
 Bateson and punnet called it coupling.
 Inheritance of those character that have their determine gene on same chromosome called link-
age or collective inheritance.
 Inheritance of these characters occur as a single unit.
 Thomas Hunt Morgan is called as father of experimental genetics.
 He worked on Drosophila melanogaster. He discovered presence of genes over chromosomes,
chromosomal theory of linkage, chromosome mapping, crossing over, criss-cross inheritance
and mutability of genes.
 Morgan was awarded Nobel Prize for physiology in 1933. Criss-Cross inheritance :
 In which genes one parent are transferred to the grand children through children of opposite sex.
There are of two types.
(i) Diagynic : Transfer of trait from male parent to grandson through daughter or female offspring,
(ii) Diandric : Transfer of sex-linked trait from mother to grand daughter through her son.
 Criss-cross inheritance proved that genes are located on chromosomes, A trait showing criss-
cross is sex-linked.
Non-Criss-Cross Inheritance : It is autosomal as well as sex-linked.
There are of two types -
(i) Holandric : If it passes directly from father to son.
(ii) Hologynic : If passes directly from mother to daughter.
 Nondisjunction : Failure of chromosomes to separate during anaphase. It is two types -
(i) Meiotic: Failure of synapsed homologous chromosomes to separate during anaphase-l.
(ii) Mitotic: Failure of daughter chromosomes to separate during mitotic anaphase.
 Discovered by Bridges in Drosophila.
 He found that occasional white eyed female had a chromosome complement of XXY. Here XO
is male.
 Initial nondisjunction is called primary nondisjunction. It remains the progeny.
 The presence of nonseparated chromosomes in the progeny due to previous nondisjunction is
called secondary nondisjunction.
 For example, Bridges obtained a number of abnormal flies in the progeny of XXY like XXY,
XXX.XYY, etc.
Cis-Trans Arrangement:
 Cis-arrangement is the occurrence of two linked dominant genes/alleles on the same chromo-
some and the recessive ones on its homologue.
 GENETICS 25

 In trans-arrangement the linked genes are both dominant and recessive.

 AT 50% map units the linked alleles show regular crossing over so that cis-arrangement is changed
to trans-type and vice versa.
Linkage theory of Morgan :
 Proposed by Morgan and Castle in 1911. According this theory-
(a) Genes are present in the linear sequence on chromosome.
(b) Genes that are present on same chromosomes are linked genes.
(c) Strength of linkage is inversely proportional to distance between the linked genes.
(d) Due to aging activity of chromosome decreases so strength of linkage increase. Because
crossing over decreases the linkege.
(e) Number of linked genes that are present on the one pair of homologous chromosomes called
linkage group.
 Total genes that are present on the one pair of chromosome called linkage group.
 Number of linkage group = Number of pairs of chromosome.
 Bacteria have no chromosome but gene present one molecule of DNA is known as linkage so
one linkage group present in bacteria.
Coupling and Repulsion :
 Bateson and Punnet found that offspring of a cross between true blue/purple flowered long
pollen grained (BBLL) and red flowered round pollen grained (bbll) plants of Sweet Pea when test
crossed with recessive parent (bbll) produced mostly parental types.
 Similarly, offspring of blue flowered round polled grained (BBII) and red flowered long pollen grained
(bbLL).
 Sweet Pea plants test crossed with recessive parent yielded mostly parental types. They ex-
plained this phenomenon by coupling and repulsion theory.
 Two alleles coming from same parent (AABB, aabb) tend to enter same gameteand hence trans-
mitted together in an offspring. It is called coupling.
 Two alleles coming from different parents (aaBB.AAbb) tend to enter different gametes to remain
a part of the offspring. It is called repulsion.
 The genes which remain together on the same chromosome are called linked genes. The
genes which are found on different chromosomes are known as unlinked genes.
 Unlinked genes show dihybrid ratio of 9 : 3 : 3 : 1 and test cross ratio of 1 : 1 : 1 : 1.
 Linked gene show dihybrid ratio of 3 :1 and test cross ratio of 1 : 1.
Linkage is of two types -
(i) Complete Linkage : It is rare, found in male Drosophila, female Silkworm Moth.
(ii) Incomplete Linkage : It is tendency of linked genes to separate and from recombinant type due
to crossing over. Found in female Drosophila, Maize etc.
Linkage Group :
 Group of lineraly arranged linked genes which are inherited together as a single unit due to their
being present on a chromosome.
 Homologous chromosome constitute the same linkage group (limitation of linkage groups) as
they have the same gene loci with homozygous or heterozygous alleles e.g., 7 linkage groups in
Pisum (2n = 14, n = 7), 4 in Drosophila (2n = 8), 10 in maize (2n = 20) and 23 in human (2n
= 46).
 Sex Linkage : Discoverd by Morgan. Inheritance of those character that have their determining
gene on sex chromosome called sex linked inheritance.
 Sex Linked Traits : Traits which are determine by genes present on sex chromosomes.
 Sex limited Traits : Traits Which find expression only in one sex, e.g., milk secretion in mamma-
lian females.
 Sex Influenced Traits: Traits found in a sex due to particular sex hormone e.g., beard and
moustaches in human males.
e.g. (i) Haemophilia (Bleeder’s diseasse) : Discovored by John otto (Classical Haemophilia
/ Royal Disease), two types (1) Haemophilia A (2) Haemophilia B (Christmas disease).
 Gene responsible for the synthesis of blood clotting factor VI Ith located on X chomosome.
 When this gene is normal then value of clotting time is 2 to 8 minute.
 GENETICS 26

 When gene mutation occur this gene is converted into the haemophillic gene and value of clotting
time is increased.
 Haemoplilic gene is the recessive gene. It does not express itself in heterozygous condition. It
express itself in hemizygous or homozygous condition. Haemophilic girl baby does not live. Death
occur in embryonic life.
e.g. (ii) Red - Green Colour Blindness/Colour Blindness/Daltonism :
 Discovered by Horner.
 It is a recessive sex-linked defect in which human beings are unable to distinguish red and green
colours. Gene complement of a colour blind woman is X CXc, that of colour blind man XcY and
carrier woman with normal vision XX c.
 A marriage between colour blind man (XCY) and normal woman (XX) gives rise to normal boys
(XY) and carrier but phenotypically normal girls (XXc), results in one half normal girls (XX), one
half carrier girls (XXc), one half colour blind sons (XCY) and one half normal sons (XY).
 A marriage between normal visioned man (XY) and colour blind woman (XCXC) will result in colour
blind sons (XCY) and carrier daughters (XXC).
 Colour blindness of three types -
(a) Protanopia (red colour blindness),
(b) Deuteranopia (green colour blindness)
(c) Tritanopia (blue colour blindness).
e.g. (iii) Inheritance of Dominant Sex-linked Genes in Man :
 The above discussed cases of sex linked inheritace were concerned with the sex linked reces-
sive genes.
 One dominant sex linked gene produces defective enamel of the teeth and is found more
frequenctly in womrn than in man because there are two X chromosomes in women only one in
man.
e.g. (iv) Inheritance of Y-linked Characters or Inheritance of Holandric Characters :
 A few genes are present in the nonhomologous region of Y chromosome of man.
 These are called holandric genes or Y-linked genes. These genes do not have alleles on X
chromosome.
 Y-linked characters are transmitted from male parent to all his male offspring.
 Whether recessive or dominant, Y-linked characters express them in every male offspring in
every generation.
 It was reported by Dronamraju.
Holandric genes in man are -Testis determining factor (TDF)
Hypertrichosis (excessive hair growth on pinna),
Histocompatibility antigen gene (H-Y, antigen),
Ichthyosis hystrix gravior (gene for scaly skin) and gene for height.
e.g. (v) Inheritance of X-Y Linked Genes : Some sex linked genes are present on homolo-
gous section X and Y chromosomes. .
 These are inherited like autosomal genes.
 These are total colourblindness, xeroderma pigmentosum and epidermolysis bullosa and
retinitis pigmentosa.
 X-chromosome of humans 102 genes while that of Drosophila some 150 genes. Y-linked Genes.
 In the homologous part (the part that synapses with X-chromosome) the genes are similar to
those of X-chromosome.
 They are called X-Ylinked genes, e.g., bobbed bristles in Drosophilla, TDF, porcupine skin,
maculatus (mac) trait in male guppy fish Labistes (large black spot on dorsal fin and large red
spot below and in front of dorsal fin).
CROSSING OVER:
 Crossing over is the reciprocal exchange of segments between nonsister chromatids of a pair of
homologous chromosomes.
 It results in recombination of genes.
 The nonsister chromatids in which exchange of segments takes place are known as cross-
overs or recombinants while other chromatids not involved in exchange of segments are called
 GENETICS 27

non crossover or parental types.

 Jenssens was the first person to discover chiasmata.
 The term crossing over was coined by Morgan who also discovered linkage and recombina-
tions.
 Morgan proposed that crossing over and hence recombination is the function of distance be-
tween two linked genes.
1. Single Crossing Over: At one point between two nonsister chromatids resulting in two cross-
overs and two parental types.
2. Double Crossing Over: At two points in a tetrad of chromatids.
(a) Reciprocal. At two points between the same nonsister chromatids - two parental and two double
cross-overs.
(b) Complementary. Three or all the four chromatids are involved in double crossing over.
3. Multiple Crossing Over: At three or more places in the same tetrad of chromatids.
4. Somatic Crossing Over: It is crossing between homologous chromosomes that occurs in so-
matic cells without the process of meiosis.
 Chromatids often become unequal, e.g., Aspergillus, Penicillium.
Mechanism of Crossing Over And Recombination :
 The various events associated with crossing over and recombination are :
(i) Synapsis
(ii) Duplication of chromosome
(iii) Crossing over and Recombination (in Pachytene Stage)
(iv) Terminalization (Diplotene Stage)
Theories Explaining Mechanism of Crossing Over:
(i) Classical theory : Proposed by Karl Sax.
(ii) Chiasma-type Theory: Proposed by F.A. Janssens, Modified by Darlington and John Beling.
(iii) Darlington’s Strain Theory
(iv) Copy Choice Thoery : Proposed by Belling.
(v) Switch Model (Modified version of Belling’s hypothesis): Proposed by J. Lederberg.
(vi) Breakage and Exchange Theory : Proposed by Stern and Hotta.

Factors Influencing Crossing Over and Linkage :

1. Distance : Frequency of crossing over increases and strength of linkage decrease with the
increase in distance between genes.
2. Heterochromatin : It decreases crossing over.
3. Temperature : Fluctuations increase crossing over.
4. X-rays : Exposure to X-rays increases frequency of crossing over.
5. Age : The frequency of crossing over decrease with age. .
6. Sex: In heterogametic organisms, crossing over is sometimes very little, e.g., male Drosophila.
7. Chemicals : Different chemicals influence crossing over to different extent.
8. Interference : One cross-over decreases the frequency of another cross-over nearby. When
interference is more, the degree of coincidence (ratio of observable double cross-over to ex-
pected cross-over) is small.
Importance :
(i) Crossing over bring recombination or new combination of genes and hence variations.
(ii) Useful recombinations are picked up by breeders to produce new improved varieties of plants
and animals.
(iii) It has proved that genes lie lineraly on the chromosomes.
(iv) It is a tool to develop linkage or chromosome maps.
Independent Assortment and 50% Recombinations : Independent assortment of genes/fac-
tors occur under two conditions:
(i) Occurrence of genes on different/nonhomologous chromosomes.
(ii) Genes present onthe same chromosome but occur at a distance which allows one crossing
over between them at every meiosis.
 GENETICS 28

Phenotypic Expression in Haploids :

 Haploids have one chromosome of each type and hence one gene/allele for a trait.
 There cannot be dominant - recessive interaction.
 Hence, every gene, whether dominant or recessive, wild type or mutant, finds expression in
them.
 Diploid stage occurs in zygote which is immediately followed by meiosis (zygotic meiosis) so
that organisms remain haploid.
 In haploids monohybrid ratio is 1 :1 (instead of 3:1) and dihybrid ratio is 1 :1 :1 :1 (two parental and
two recombinant instead of 9 : 3 : 3 :1).
Crossing Over and Recombination Frequencies :
 One crossing over produces 50% recombinant types.
 Therefore, frequency of crossing over would be doublethe frequency of recombinants.
 1 % recombinants (1 % cross-overs) means crossing over in 2% meiocytes.
Linkage/Cross Over/Chromosome Map :
 It is a graphic representation of relative positions/order and relative distances of genes in a chro-
mosome in the form of line like a linear road map depicting different places and their relative
distances without giving exact mileage.
 It is based on Morgan’s hypothesis that frequency of crossing over/recombination between two
linked genes is directly proportional tothe physical distance between the two.
 Cross-over value (COV) is frequency of crossing over between two linked gene present onthe
same chromosome. Cross-over units are called morgans or map units.
 It is calculated through knowing the recombinant percentage in a progeny.
 Morgan crossed pure breeding grey-boiled normal eye coloured Drosophilla flies with pure black
bodied purple eye coloured flies. F1 flies were grey-bodied with normal eye colour.
 They were back-crossed with maleshaving black body and purple eye colour. The result was
Grey body, Normal eye colour 250
Black body, Purple eye colour 234
Black body, Normal eye colour 15
Grey body, Purple eye colour 16

Recombinants 31
Total 515
Cross-overvalue (COV) = 31/515 = 5.02%
1 Map unit or Centimorgan is equivalent to 1 % recombination between two genes.

Significance:
1. Chromosome maps confirm that genes occur linearly on the chromosomes.
2. They prove that genes occur at fixed points or loci on chromosomes.
3. They help in locating genes on specific chromosomes.
4. The resultof dihybrid/trihybrid cross can be predicted.
5. Predicting chances of recombination and hence mainpulation of breeding programmes. Recom-
binations :
They are a type of genetic variations which appear due to reshfulling of genes in linkage groups
resulting in change of genotypes. Recominations can occur due to.
(i) Independet Assortment of Chromosomes :
 This occurs at the time of meiosis/gametogenesis.
 Independent assortment can produce 22 = 4 recombinations in case of two pairs of chromo-
somes, T types of recombinations in case of sevel pairs of chromosomes and 223 or 86 million
types in case of 23 pairs of chromosomes in both male and female gametes.
(ii) Random Fertilization:
 Any of the possible recombination in male gamete can pair with any of the possible recombina-
tion in female gamete so that the chance of chromosome recombination multiplies - 22 * 22 in
case of two paris of chromosomes, 27 * 27 in case of seven pairs of chromosomes, 223 x 223
(8.6 million * or 7 x 1012) in case of 23 pairs of chromosomes.
 GENETICS 29

(iii) Crossing Over:

 It established new linkages due to exchange of segments between nonsister chromatids.

NEUROSPORA GENETICS
Kingdom - Mycota (Fungi)
Division - Eumycota
Subdivision - Ascomycotina
Class - Pyrenomycetes
Order - Sphaeriales
Family - Sordariaceae
Genus - Neurospora
Species - N. crassa
Common name - Pink Bread Mold or Drosophilla of plant kingdom
It was used as material for genetic studies by Beadle and Tatum. It is an excellent experimental
material because.
(i) It is haploid so that every gene (dominant or recessive) and every mutation finds expression.
(ii) Short life cycle.
(iii) The fungus can be grown on minimal medium of sugar, biotin and inorganic salts.
(iv) Few chromosomes, n = 7.
(v) Reproducs both asexually and sexually.
(vi) It is heterothallic with two genetic strains, A (+) and B (-).
(vii) Karyogamy and meiosis occur in the same cell. The products are duplicated by mitosis and
changed to 8 ascospores.
(viii) Products of meiosis remain lineraly arranged, do not slip past one another so that they can
be picked one by one and analysed.
STRUCTURE:
 Mycellium - Branched, Multicellular, Septate
 Cells - Contains haploid nucleus, pigments present.
 Hypahae - Composed of interwined hyphae, hyphae grow supuer ficial on substratum.
Reproduction : It reproduces asexually by conidia and sexually by contact between a conidia of
+ strain with the ascogonium (reproductive structure) of- strain.
1. Asexual Reproduction : Most common type, by Micro and Macro conidia
(a) Macroconidia:
 Large, Oval, Multinucleated, Pink. Develop on erect aerial branches of mycellium.
(macroconidiophore).
 Branch produce conidia in Beaded chain at tip.
 Terminal conidium of a chain may further produce more conidia by budding. Conida are dis-
persed by wind.
 Macroconidia belong to form - geneus - monilia .
(b) Microcondia:
 Formed on Micro conidiophore. Uninucleate, sticky, small.
 They are born in groups in Termal and lateral position on conidiosphores.
2. Sexual Reproduction : Neurospora crassa = Heterothalic, Neurospora terricola = Homothalic
(i) Female sex organ = Ascogonium = Protoperithecium = Bulbils
 Ascogonium - coiled/multinucleated/Aseptate but sepatate in later stage,
(ii) Male sex organ = Antheridia
 but Micro/Macro conidia may act as spermatia.
(iii) Plasmogamy: Heterothalic species - conidia of one strain (+) unite with trichogyne of as-
cogonium of other strain (-).
(iv) Development of Ascus: After plasmogamy ascogonium develops one/more ascogenous
hyphae (each cell of ascogenous hypha contain a Dikaryon).
TETRAD ANALYSIS :
 It is analysis of the products of individual meiosis so as to fin out
(i) Linkage groups (parental types).
 GENETICS 30

(ii) Recombinations (recombinant types).

(iii) Segregation of genes and
(iv) Independent assortment of genes. According to arrangemer of meiotic products tetrads are
of two types :
(a) Ordered Tetrad : Products of mieiosis are arranged linearl in tandem, e.g., Neurospora.
(b) Unordered Tetrad : Meiotic products get mixed up, e.g. Yeast. According to presence or
absence of parental an recombinant types, tetrads can be parental ditype (PD, n -recombina-
tion), nonparental ditypes (NPD, with recombinations only, no parental types, rare) and tetratype
(TT with 50% parental and 50% recombinant types).
NPD (if any)  1/2TT
Recombination Frequency =  100
Total Tetrads
(i) First Division or Segregation between Centromere and Gene-a :
 A cross between cultures of Neurospora, one normal (a+) and other mutant (a) strain produces
8-ascospores, out of which four are normal (a+) and other four mutants (a).
 The linear arrangement of ascospores in ascus is 4a+: 4a.
 It indicates the absence of crossing over between locus-a and centromere.
 This is described as first division segregation.
(ii) Second Division Segregation or Crossing over between Centromere and Gene-a :
 In a similar cross if crossing over takes place between centromere and gene a, it leads to paired
arrangement of ascospores with a particular gene, it is described as second division crossing
over.
 The arrangement of ascospores in the sequence (2 : 2 : 2 : 2) is a follows:
(a) a+ : a+ : a : a : a+ : a+ : a : a
(b) a+ : a+ : a : a : a : a : a+ : a+
(c) a : a : a+ : a+ : a+ : a+ : a : a
 The results depend upon the orientation of chromosomes at the equatorial plate at second
anaphase.
Single Gene Mapping in Neurospora :
 In Neurospora centromere behaves as a gene for mapping gene pair.
 In such a case distance of gene from the centromere is calculated by calculating the percentage
of cross overs between centromere and gene.
 Suppose, in an experiment 13% of the asci show crossing over (i.e., second division segrega-
tion).
 Since ascospores in one ascus are the products of four chromatids, the 10% asci represent 40
chromatids. But out of the four, only of two chromatids undergo recombination in any one cross.
 It means that out of 40 chromatids only 20 are cross over chromatids. Therefore, the precentage
of cross over or recombination chromatids will be-
20  100
= 5%
400
 Where 400 is the number of chromatids in one hundred asci.
 The results show the particular gene is 5 map units away from the centromere.
Crossing Over in Four Strand Stage :
 Crossing over (chromosomes AB, ab) in four strand stage produces two parental types (AB, ab)
and two recombinants (aB.Ab).
 If it occurs in two-strand stage, there will be two recombinants (aB, Ab) and no parental types.
 However, if the phenomenon fails in 50% cases, the parental and recombinants occur in the
same ratio as in one crossing over in four strand stage.
 The controversy was resolved by the study of ascospores in the asci of Pink Bread Mould, Neu-
rospora crassa.
 Here, products of meiosis remain linearly arranged and undergo one mitosis without slipping
past.
 GENETICS 31

 Presence of four types of ascospores, two of each type in the same ascus (2 x 2 parental, 2 x 2
recombinant) indicates crossing over in four strand stage - 2 : 2 : 2 : 2, 2 : 4 : 2.
Detection of Linkage between Two Genes :
 If a zygote has two linked genes a and b and is heterozygous for these two loci (AB/ab), the
recombination frequency for these two genes in a tetrad is calculated as follows :
1. Parental ditype (PD): These are either non-cross overs or two strand double cross overs, 50% of
the meiotic products resemble either of the parental type, i.e., (2 AB: 2 ab).
2. Nonparental ditype (NPD): These are formed as a result of four strand double cross over be-
tween the two genes. These present two types of nonparental recombinations in equal frequency.
Their genie composition is 50% Ab and 50% aB (2 Ab : 2 aB).
3. Tetratype (T type): The tetratype asci (i.e., asci with four combinations of genes) are formed
either as a result of single crossing over or as a result of three-strand double cross over.
 These asci possess ascospores two parental and two nonparental types (i.e., 1 AB: 1 Ab: 1 aB:
1 ab).
 In all these cases recombination frequency between these two genes is 50%.
 The PD and NPD are not significantly different.
 The tetratype tetrads are fewer than PD or NPD.
 The tetratypes can be produced only if the genes are linked.
 Their ratio to PD or NPD will be governed by the distance between the genes.

MUTATION
 Any sudden or sequential heritable change occurring in Genetic architecture of living organisms
transmitted in further generation is Mutation.
 Hugo de Vries was the scientist who coined this word -Mutation while working in Oenothera
lamarckiana (Evening Primrose).
 It is responsible for variations in living organisms.
 Charles Darwin knew about variations and he gave the name “sports” but could not explain
these variations (Genetic Changes).
 Theory of Natural Selection and Mutation theory of evolution are collectively called as Neo Dar-
winism.
 De Vries was of the opinion that mutations are basis of evolution and its main features are as
follows:
(1) Mutation may occur at any stage in the development of organism.
(2) It may take place in germ cells as well as somatic cells.
(3) It may be induced artificially or may arise spontaneously in nature.
(4) Mutations occur in ail living organisms.
(5) It may he useful or harmful
(6) Mutations may be small or large.
(7) They are rare
(8) Mutations may effect functioning of an organism and structure.
(9) Very few mutations are dominant they are usually recessive.
(10) They are usually lethal in their action but may be beneficial or at least not harmful.
TYPES OF MUTATIONS :
1. Chromosomal Mutations or chromosomal Aberrations :
 In this, alteration in amount or position of genetic material is observed.
2. Point Mutations = Gene Mutations = Intragenic changes
 They are permanent heritable changes in genes or cistron of DNA molecule i.e. alteration in the
chemical structure of gene at molecular level.
1. Chromosomal Mutations or chromosomal Aberrations :
Change in the structure of chromosome : This type of modification of chromosomes involves
arrangement of genes or loss of genes.
 They may be of following types.
1. Deficiency or Deletion :
 In a deficiency a small segment of chromosome is lost completely.
 GENETICS 32

 It may be terminal or intercalary.

 Deletion causes a disturbance in the genetic balance.
 The genes with deleted chromosomes are often nonviable (may have lethal effect).
 Deletion was first recognized in Drosophila in 1915.
 It may follow a double break and entails actual loss of a chromosome segment so that a stretch
of genetic material is missing.
 Chromosome becomes smaller as a result of loss.

ABCDEFGHI

+ (Deletion)
ABCDEF GHI
e.g.(i) Notch character in Drosophilla : A mutant produces notched margin of the wings and it
is in herited as a sex-linked dominant in female but is lethal in male. Since the males with notch
character are not viable, the female help in the inheritance of this character.
e.g. (ii) Cri-du-Chat or cat-cry syndrome: Caused by deletion in the short arm of chromosome
- V.
e.g. (iii) Philadelphia syndrome : Deletion caused in the long arm of 22nd chromosome (Philadel-
phia chromosome).
e.g. (iv) In plants : Deficiences are not easily transmitted to the offspring because pollens with
deficiency chromossomes are found to be sterile. However, Creighton and McClintock have shown
that in maize small deficiencies are retained and inherited even in homozygous conidion.
2. Duplication:
 A separated chromosome may remain free in the nucleus but it can not survive without cen-
tromere.
 It may attach with other broken segment as a result of which the organism carries the same gene
repeated in its chromosome complement.

ABCDEFGHI ABCDEFGHIGHI
(Duplication)
Duplication have been recognised in three types:
A. Tandem duplication :
 Added segment has the same genie sequence as is present in the original state in the chromo-
some.
B. Reverse tandem duplication :
 Sequence of genes aligned in the attached chromosome piece is just the reverse of the original
alignment.
C. Displaced duplication:
 Chromosomal segment gets attached to some nonhomologus chromosome.
e.g. Bar eye of Drosophilla :
 In Drosophilla Bar character is a dtftninant X-linked character.
 It is controlled by seven bands in 16A region of X-chromosome.
 In normal female (homozygous wild type) 16 A region is represented once in both the X-chromo-
somes.
 Its eyes are large and oval with about 779 ocelli.
 The bar gene reduces the number of functional ocelli in the eye.
 In heterozyous bar female Drosophilla the eyes are elongated bar-shaped with 358 facets.
 In homozygous bar each eye has just 68 facets.
 In heterozygous double bar, (BB/ +) the 16A locus is represented threee times in one X and
only once in the other X-chromosome and the number of ocelli is just 45.
 In homozyous ultrabar the 16A locus is represented three times in both the X-chromosomes.
 GENETICS 33

The phenotypic effect of duplication is illustrated by teh attached -X females in Drosophilla.

0

3. Translocation :
 A broken bit of chromosome may get attached to some other chromosome.
 Translocations are usually reciprocal and are different from crossing over as whole chromo-
somes are involved.
 Reciprocal translocation involves mutual exchange of chromosomal segments between non
homologous chromosomes.

ABCDEFGHI

Non homologous

JKLMNOPQRS Chromosomes

Translocation

ABCDEFG QRS JKLMNOP GHI

+

 Depending upon which part or part of nonhomologous chromosomes become detached and
reunited the translocation can be-
A. Simple Translocation : Small segment of a chromosome is added to the end of other
nonhomologous chromosome. It is very rare in nature.
B. Shift Translocation : Intercalary segment of one chromosome is broken off and is inserted
within the break in another nonhomologous chromosome.
C. Reciprocal Translocation : Exchange of parts between nonhomologous chromosomes.
D. Multiple Translocation : More than two pairs of nonhomologous chromosomes exchange parts.
e.g. (i) Translocation have been studied in Drosophilla, Oenothera and maize.
e.g.(ii) In man translocation between 15 and 21 chromosomes results in 21 trisomy and causes
Down syndrome.
* Robertsonian translocation : Change in morphology or appearance of chromosome by cen-
tric fusion between two acrocentric chromosome segments to forma a metacentric or sub-
metacentric chromosome. Which may lead to the change in number of chromosome.
4. Inversion :
 A segment of a chromosome gets inverted during reattachment. Thus a chromosome having the
genes ABCDEFGHI in linear order may get the segment DEF inverted. The new arrangement will
he ABCFEDGHI.
Inversions of Two Type :
1. Paracentric inversion :
 When both the breaks in the chromosome during inversion occur on the same side of the cen-
tromere.
 The inverted segment of chromosome is without centromere.
 Peracentric inversion may be intraradial or homobrachial and inter-radial or heterobrachial
inversion.
2. Pericentric inversion : Inverted segment contains the centromere.
 Inversion occurring in a single chromosome is called chromosomal whereas that occuring in
both the member of a homologous pair is called allelosomal.
 Allelosomal inversion may be further divided into allelobrachial and heterosomal.
 Inversion suppresses genetic recombination.
 It is helpful in maintaining heterozygosity and balanced lethal systems.
 The chromosome aberration entailing two breaks in a chromosome followed by a reversal of the
segment and consequently of the gene sequence in the segment.
 Pericentric inversion includes the centromere in the inverted segment. Whereas paracentric
 GENETICS 34

inversion do not.
 The change in phenotypic expression when genes are reallocated without altering their number
is called position effect.
Change in number of chromosome or heteroploidy :
(Variations in chromosome number or numerical change in chromosomes)
 The somatic chromosome number of any species, whether diploid or polyploid is designated as
2n and the chromosome number of the gamete is denoted as haploid.
 A monoploid on the other hand, has the basic chromosome number it.
 In a diploid species, n = x, one x constitute a genome or chromosome complement.
 Thus a diploid species has two, a triploid has 3 and tetraploid has four genomes and so on.
 Variations can be of two types.
A. Euploidy :
 When variations of chromosome number is through increase in one or more complete set of
chromosomes or genomes.
B. Aneuploidy :
 When chromosome number is not exact multiple of the basic number but is more or less than
basic (diploid) number.

Ploidy

Euploidy Aneuploidy
(True polyploidy) (Hetroploidy)
Or Even (= irregular polyploids)

Monoploidy Diploidy Polyploidy

(X) (2X) (3X, 4X, 5X etc.)

 Suppose the basic chromosome number is (x), the number of chromosome is each case of the
above will be 4,8,12,16, 20 etc.)
 Euploids are divided in two groups on a different pattern.

Euploidy

Autopolyploids Allopolyploids
(Multiple of exactly (Formed by union of genomes of
the same genome) different plants) eg. an allotetetraploid
eg. an autotetraploid (AABB)
(AAAA)

Aneuploidy

Hypoploidy Hyperploidy

Monosomy Nullisomy Trisomy Double trisomy Tetrasomy

(2n – 1) (2n – 2) (2n + 1) (2n + 1 + 1) (2n + 2)
eg. 8 –1 = 7 8–2=6 8+1=9 8 + 1 + 1 = 10 8 + 2 = 10
 GENETICS 35

EUPLOIDY
 Majority of animals in plants are diploid.
 In euploidy organism either loses a comple set of chromosomes or acquires one or more addi-
tional sets of chromosomes over and above the two sets of diploid complement.
(i) Monoploidy or Haploidy :
 When organisms have only one genome (n) in their body cells. Bacteria, Fungi, Algae, Gameto-
phyte generation of Bryophyte and other plants are included here.
 Monoploids possess only one set or single basic set of chromosomes.
 Haploids on the other hand have half the somatic chromosome.
 In diploid organisms monoploids and haploids are identical while in a tetra or hexaploid with 4n or
6n chromosomes the haploids will possess 2n or 3n chromosomes whereas its monoploid will
possess only one set (n) of chromosome.
 Haploids of polyploids are called euploids, while those of aneuploids are called aneuhaploids.
 In honey bee (Hymenoptera) haploid males (drones) are found as a routine.
 These arise parthenogenetically from the unfertilised eggs of diploid organisms.
 Similarly haploids may originate spontaneously in flowering plants due to parthenogenetic develop-
ment of unfertilised egg.
 Such haploids have been obtained in tomatoes and cotton.
 Haploids can be artificially induced by any one of the following methods :
(a) By X-ray treatment (b) By delayed pollination
(c) By temperature shocks (d) By colchicine treatment.
(e) Interspecific or intergeneric hybridisation, (f) By culturing pollen grains.
 Haploids are smaller in size (In their leaves flowers, fruits and seeds) in comparison to diploids.
 Haploids are also less resistant and comparatively weak then diploid.
 Haploids have just univalvents without any homologue to pair, which are distributed at random
during anaphase-l of meiosis producing monosmics. Thus haploids are sterile.
 Haploids are study the role of individual chromosomes.
(ii) Diploidy - It is characterised by two genomes (2n) in each somatic cell of diploid organisms
(iii) Polyploidy or Euploidy - Organisms is more than two sets of chromosomes are known as
polyploids.
e.g. Triploids (3n), Tetroploids (4n), Pentaploids (5n), Hexaploids (6n) and so on. This phenom-
enon of change in the number of sets of the chromosomes is known as polyploidy.
Types of Polyploids : Depending upon the source of addition chromosome sets, two types
(a) Autopolyploids (b) Alloployloids
(a) Autopolyploids : Chromosome set or sets of the same species is added to its diploid genome.
If a diploid cell has AA genome, an autotriploid will have AAA and an autotetraploid-AAAA.
 Autoployploids are relatively rare in nature. These can be produced artificially,
e.g. Doob grass (Cynodon dactylon) (3n)
Rye (Secale cereale) (4n)
 Autoploids are known in berseem, marigold, snapdragon, flex, grapes, apples, etc.
 It may be natural or produced artificially.
 A chemical colchicine extracted from corm of Colchicum autumnale.
 It breaks the spindle fibre and no cell wall formation occurs.
 This results into doubling of chromosome.
 Autopolypoids are larger than the diploids due to increased cell size. (Leaves, flowes, fruits and
seeds)
 These show vigrous growth.
 Flowering is delayed but flowers are comparatively large.
 Seeds are few but large.
 Growth rate is slow due to slow rate of cell division.
 Polyploidy above tetraploid level produces abnormalities like wrinkeled leaves, dwarfing or weak-
ling.
 Auto-octoploids or higher have very low survival value.
 GENETICS 36

 Meiosis in triploids and pentaploids is abnormal.

 The third homologoue either fails to pair forming a univalent (1 : 1) or is randomly distributed to
the gametes (2:1).
(b) Allopolyploids : The term “allo” indicates that non homologous sets of chromosomes are in-
volved. Allopolyploids do not occur in nature. However some cytologists have produced allopoly-
ploidy in certain plants by selective breeding methods. Alloploidy is also known as Amphiploidy.
 Allopolyploids are formed by multiplication of chromosome sets of a hybrid of two diploid spe-
cies.
e.g. an allotetraploid between two species A and species B will be formed if F1 hybrid (AB) of
these two species undergoes chromosomes doubling or produces diploid gametes.
 Usually the hybrids between two species are sterile because unrelated chromosomes do not
pair during meiosis.
e.g. (i) Raphanobrassica:
 In 1928 Karpenchenko crossed a radish (Raphanus sativa) with cabbage {Brassica oleracea)
both plants belong to different genera having same chromosome number (2n = 18).
 The hybrid is sterile. The hybrid has 18 chromosomes, 9 derived from radish and 9 from cab-
bage. Occasionally meiosis fails altogether and there is no reduction in chromosome number (9
of radish and 9 of cabbage parent).
 When these gametes fuse, they produce F2 Hybrid which is fertile and contains 36 chromo-
somes (18 of Raphanus and 18 of Brassica) and is called Raphanobrassica.
 Those plants which are allotetraploids are entirely new species.
 In addition to large seedpods with many seeds, Raphanobrassica also is a large and vigorous
plant.
(ii) Triticale (a new manmade cereal):
 Triticale (Triticosecale) is man made cereal. It is a cross between wheat (Triticum) and rye (secale).
 Tetraploid (2n = 4x = 28) or hexaploid Triticum (2n = 6x = 42) is utilised for the synthesis.
 One would get hexaploid triticale. (2n = 6x = 42) or octaploid triticale (2n = 8x = 56) respectively.
 In each case, only diploid rye (2n = 2x = 14) was used.
(a) Triticum durum (2n = 28) × Secale cereale (2n = 14)

F Hybrid (sterile)(2n = 21)
1
 chromosome doubling
(Hexaploid triticale) ( 2n = 42)
(b) Triticum aestivum (2n = 42) × Secale cereale (2n = 14)

hybrid (Sterile) (2n = 28)
 Chromosome doubling
(octaploid Triticale) (2n = 56)
(iii) Gossypium :
 The American cultivated cottons Gossypium bardadense and G. hirsutum have 26 pairs of chromo-
somes and represent the amphitetraploid derivatives from crosses of diploid species with 13
pairs of chromosomes.
 The diploid species G. raimandii with 13 pairs of chromosomes occur in wild state in Central
America, Peru and Galapagos Islands and G. herbaceum is found in Old World.
The American cottons represent tetraploid hybrid between the New World and Old World coton
species.
 GENETICS 37

Gossypium herbaceum × Gossyplum raimandii

(Old world cotton, 2n = 26) (Americal upland cotton, 2n = 26)
(Small chromosomes) (Large chromosomes)

F1 hybrid (2n = 26)

Colchicine
Gossypium hirsutum
(26 h + 26 r)
small large
(New world cotton)

e.g. (iv) Evolution of Nicotiana - Tobacco Speices : Clausen and Goodspeed have
synthesised a new hexaploid species of tobacco :

Nicotiana tabacum (2n = 48) × Nicotiana glutiosa (2n = 24)

Hybrid
(2n = 24 + 12 = 36)
Triploid (Sterile)

doubling

Nicotiana digluta
(2n = 72)

Phenotypic effects of polyploidy :

 Plant becomes gigantic in morphology.
 Tetraploid plants have large sized pollen grains, cells of leaves, stomata, xylem etc. than a diploid
plant.
 They have large sized fruits, seeds and flowers. In tetraploid cabbage and tomato,
ascorbic acid content is high.
ANEUPLOIDY
 Addition or loss of one or more chromosomes to the complete diploid chromosome complement
of an organism.
 The organisms with such chromosome complement are knwon as aneuploids.
 Aneuploidy can be of two types: Hyperploidy and hypoploidy.
(A) Hyperploidy : It is due to addition of one or more chromosomes to complete chromosomes
complement.
(1) Trisomy (2n + 1):
 Individuals having one chromosome extra to the diploid genome.
e.g. (a) Klinefelter’s syndrome (b) Super female (c) Super male
(d) Edward syndroem (e) Down’s syndrome (f) Patau syndrome
(a) Klinefelter’s syndrome :
 Occurs in male, 47 = 44 + XXY Symptoms
 Present in male, breast is absent, this is called Gynecpmastia.
 Thin voice , Mental retardation.
Testes atrophy – Testes small in size. Do not produce sperm called Azospermia
– Sperms absent, Spermatogenesis absent
 It occurs due to the non-disjunction of sex chromosome.
 Barr body present in male of klinefleter’s syndrome.
 Barr body is in activated X-chromosome = extra X-chromosome
 GENETICS 38

 Number of barr body (s) = Total nunber of X-chromosome -1

 Klinefelter syndrome can also be 44 + XXXY due to non-disjunction in both male and female.
 Number of barr bodies in 44 + XXXY = 2 And Number of barr bodies in 44 + XXY = 1
 Barr bodies is checked in Athletes.Examination of barr body is done in Neutrophils (WBCs).
Super female :
 Trisomy of X-chromosome (47 = 44 + XXX).
 Occurs due to non-disjunction. Super female has 2 barr bodies.
 Menstrual cycle (M.C.) irregular. Mentally retarded .
Super male :
 Trisomy of Y-chromosome (47 = 44 + XYY).
 Y-chromosomes gets replicated.Occurs due to Endomitosis. Criminal minded.
(d) Down’s Syndrome :
 Discovered by Langdon Down.
 Cytological basis of Down’s syndrome is given by Leijeune.
 Occurs due to trisomy of 21 st pair of chromosome due to non-disjunction.
 According to Thompson, increase in mental age (35 yrs. above). Increase the chance of down’s
syndrome in child
Symptoms
 Also called mongolism, baby called monogol idiot. Simian Palmar crease.
 Round face, Oblique eyes, Wide space between eyes.
 Flat nose, Tongue protuding out, fond of music, mentally retarded.
 Dies before 4-5 years.
* Patau syndrome :
 Caused by trisomy of 13th chromosomes.
 Micropthalmia (small eyes).Micrognathia (small jaws) present. Cleft palate , Mentally retarded.
 Death occurs in primary school age 10-11 yrs.
* Trisomics in Drosophila : Studied by Bridges. Male Drosophila with an extra X-chromosome
(XXY) or a male with an extra Y-chromosome (XYY) are common example of trisomics. Chromo-
some-IV also occurs in trisomic from.
(2) Double Trisomy (2n + 1 + 1): The best example is Datura stramonium characterised
by two complete sets of chromosomes plus a single extra chnomosome i.e. one particular chro-
mosome is present in triplicate. Trisomics were obtained for the first time is Datura stramonium
by Blakeslee and co-worker.
(3) Tripple Trisomy (2n + 1 + 1 + 1)
(4) Tetrasomy (2N + 2): In this, complete set of chromosome plus two extra chromosomes
of one particular set are present
(B) Hypoploidy:- It is due to loss of one or more chromosomes.
(1) Monosomy (2n-1): A monosomic produce two kinds of gametes-(n) and (n-1). (n-1) ga-
metes remain non functional.Lack one chromosome of the normal complement.
Turner’s syndrome - Characterized by monosomy of XO type (45 = 44 + XO).
 These are sterile females.Occurs only in female.
 Occurs due to non-disjunction.
 Barr body absent, Short stature, Neck web.
 I.Q. low (Mentally retarded), Age also lessened. Aminorrhea (Menstrual cycle absent).
(2) Nullisomy (2n-2): These organisms exhibit reduced vigour, fertility and survivability. Both
members of a pair of chromosomes are missing.
 Xenia : Effect of foreign pollen is seen on the endosperm and the embryo. Term given by Focke
 Metaxenia : If foreign pollen introduces its effect on the maternal tissue also, which lies outside
the embryo and endosperm. Term given by Swingle.
2. Point Mutations = Gene Mutations = Intragenic changes :
 Most common type of Mutation. First recorded in Ancon sheep by Seth Wright.
 Ancon variety of sheep has short legs so cannot cross or jump over fences.
 Discovered by Morgan.
 GENETICS 39

1. Substitution Mutations:
 A nitrogenous bae of a triplet codon of DNA is replaced by another nitrogenous base or some
derivative of the nitrogen base, changing the codon.’
 The altered codon may code for a different amino acid and may result in the formation of a protein
molecule with single amino acid substitution, whose effect may be seen in altered phenotype.
The substitution mutations may be of the following two types ;
(a) Transition :
Purine Purine Pyrimidine Pyrimidine
 When one purine is replaced by another purine (e.g. Adenine by Guanisine or vice versa) or when
one pyrimidine is replaced by another pyrimidine (e.g. Thymine by Cytosine or vice versa)
 The transitional substitutions can be introduced by any of the following ways either during DNA
replication (copy error mutation) or otherwise.
(i) Tautomerisation :
 In a normal molecule of DNA, the purine-adenine (A) is linked to the pyrimidine - thymine (T) by
two bonds, while the G is linked to C by three bonds. However, all these four nitrogenous bases
rarely exists in alternate states.
 These states are called tautomers and are formed by the rearrangement in the distribution of
hydrogen atoms (tautomeric shifts).
 Due to tautomerisation the amino (- NH2) group of cytosine and adenine is converted into imino
(-NH) group and likewise keto (C = O) of thymine and guanine is converted to enol group (-OH).
 In tautomeric state, a nitrogenous base can not pair to its normal partner.
 A tautomeric adenine, pairs with normal cytosine and tautomeric guanine with thymine.
 Similarly, tautomeric thymine paris with normal guanine and cytosine with adenine.
 Such pairs of nitrogenous bases are known as ‘forbidden base pairs’ or ‘Unusual base pairs’.
(ii) lonization : Transitions may also be introduced by ionization of a base at the time of DNA
replication, lonization involves the loss of the hydrogen from number 1 nitrogen of a nitrogenous
base.
(iii) Base analogues : Certain chemical compounds have molecular structure similar to the
nitrogenous bases present in DNA nucleotides. These are called base analogues. These are
usually derivatives of nitrogenous bases of DNA and occur as natural as well as artificial base
analogues.
Some of the natural base analogues are 5-methyl cytosine (in wheat and grasses),
5-hydroxymethyl cytosine,
5-glucosyl hydroxymethyl cytosine (in E. coli),
5- hydroxymethyl uracil (in certain viruses),
6-Mehtyl purine (in some bacteria)
The artificial base analogues are 5-bromouracil (5-BU) = analogue of thymine
(5-methyl uracil),
 GENETICS 40

5-iodo uracil (5-IU) = analogue of thymine,

2 - bromo and 5- methyl-cytosine = analogoue of
cytosine.
(iv) Deamination :
 Certain chemical substances like nitrous acid (HNO2), hydroxylamine, diethyl sulphate (DES),
ethylmethane sulphonate (EMS), ethyl ethane sulphonate (EES), nitrosoguanidine (NTG) and
nitrosomethyl urea (NMU), change the base sequence in DNA by a series of chemical steps.
 Some of them like nitrogous acid and hydroxylamine cause deamination of nitrogenous base
by replacing amino group (- NH2) by hydroxyl group (-OH).
(b) Transversion :
Purine Pyrimidine Pyrimidine Purine
 When one purine is replaced by one pyrimidine or vice versa.
 Certain alkylating agents, like ethyl methane sulphate (EMS) and methyl methane sulphate (MMS)
induce substitutions by substituting a purine for a pyrimidine or a pyrimidine for a purine (trans-
version),
i.e., A = T changes to C = G.
2. Frame Shift Mutaions or Gibberish Mutation :
 Caused by the addition or deletion of N2 bases in the DNA or mRNA.
 The shift the reading frame of codons from the site of change onward.
 One deletion may be neutralised by one addition or vice-versa, provided they occur at the same
place or very close to each other.
(a) Deletion mutations : Loss or deletion of one or more nucleotides.
(b) Insertion mutations : Addition of one or more extra nucleotides.
e.g. Thallasemia = Cooleys Anaemia :
 In thallasemia, either a or p chain of Haemoglobin (Hb) is not synthesised.
 Due to frame shift or gibberish mutation, anywhere non-sense codon can be formed & the result-
ing amino acids chain may be shortened.
 Thus, a or p chain of haemoglobin may not be formed.
 Acridine dyes have been found to cause deletion or insertion of a single base pair.
 Acridines like 5-aminoacridine and proflavin become intercalated between two adjacnet pu-
rines and thus increase the distance between then from 3.4A to 6.8 A.
 At the time of DNA replication, either a nitrogenous base pair is introduced in the gap or a nitrog-
enous base pair is lost.
 Frame-shift mutations causedby the deletions are also introduced by the removal of ethylated
bases.
Biological Significance of Point Mutations :
 All point mutations are not lethal.
 Transition and transversions are relatively benign, because these cause replacement of only
one amino acid in the peptide chain coded, which might not produce any significant change.
 Such mutations are known as silent mutations.
 However, frame-shift (insertion and deletion) mutations cause all the DNA beyond the point of
mutation to be misread.
 Such mutaions are often lethal. If the deleted segment includes nucleotides in three or multiples
of three, there is no fram-shift error beyond the site of mutation but protein produced may be
defective.
 Forward mutation : A mutation from wild to a new type.
 Reverse/back mutation : The reversal of mutuated gene back to its original/wild form.
 Germinal mutaions : occurs in the sex cells and are inheritable.
 Recessive mutations : Show their effect after a few generations when they become homozy-
gous.
 Pleiotropic mutation : A single mutation affecting more than one character.
 Same sense or silent mutation : Due to wobble position, a change in one nucleotide of a codon
does not change amino acid specificity, e.g. AGA = AGG = AGT = AGC.
 Mis-sense mutation: When a nucleotide change in one codon causes the change of one amino
 GENETICS 41

acid of a polypeptide.
 Nonsense mutation : If a mutation causes early termination of polypeptide synthesis.
 Spontaneous Mutations : Which develop at random, naturally automatically or spontaneously
in an organism due to internal reasons without any relation to any external/environmental factor.
 The frequency of spontaneous mutations is different for different organisms and their different
genes –1 in one million in Drosophila, 1 in 10 million cell generations in bacteria, 1 in 50,000 in
human beings
 The genes which mutate frequently are called mutable genes (R-gene of colour in Maize.)
 Stable genes do not mutate even once in several million gametes.
 Mutator genes increase frequency of spontaneous mutations.
 Antimutator genes prevent spontaneous mutations.

MUTAGENS
 Factors that cause mutations are called mutagens.
Two types : Physical and Chemical
(i) Physical Mutagens:
Radiation:
 All forms of energy radiations that are capable of disrupting the chemical structure of chromo-
somes have bee found to be mutegenic in almost all the organisms.
 These may be natural radiations arising from the cosmic rays and radioactive elements or the
man-made radiations produced from X-ray machines and other technological advances in nuclear
energy studies.
 These include ultraviolet rays, x-rays, gamma rays and beta rays.
 Natural Radiations : Come from cosmic rays of the sun.
 These occur in small amount in our environment and are known as background radiations.
 Another source of natural radiations is the radioactive elements like thorium, radium and ura-
nium, present in the earth crust.
 Man Made Radiations : The experimental animals are exposed to X-rays, gamma raysand
ultraviolet rays.
 H.J. Muller showed that X-rays cause an increase in the number of mutations inthe offspring of
irradiated Drosophila.
 The frequency of chromosomal mutations is not directly proportional to the amount of radiation
measured in r-roentgen, the unie of X-ray radiation.
 X-rays discovered by Muller in 1927 for which he was awarded nobel prize.
 In 1928 L. J. Stadler produced mutation in barley and maize.
 Radiations can be Ionizing and Nonionizing.
(a) Ionizing radiations:
 Include X-ray, gamma rays, alpha and beta rays, neutrons, protons and other fast moving par-
ticles.
 Alpha and beta rays do not penetrate beyond the human skin and, therefore, would not affect
internal body cells.
 The gamma and X-rays collide with the molecules ofthe cells at high speed and eject electrons
from the outer shells of atoms.
 These radiations produce breaks in the chromosomes and chromatids and abnormal mitosis in
the irradiate cells.
 These breaks are presumed to involve the break in sugarphosphate backbone ofthe polynucle-
otide strands.
 The chromosome breaks then lead to the losses of chromosomes, chromosome segments,
deficiencies, duplications, translocations or inversions.
 These changes result inthe formation of abnromal chromosomes and abnormal chromosome
number in the daughter cells causing abnormal functioning of specially blood cancer or leukemia
are caused by radiation.
 X-rays causes Acute lymphoblastic leukaemia (Blood Cancer).
 If a pregnant lady is exposed to X-rays, then baby may suffer from Acute lymphoblastic leu-
 GENETICS 42

kaemia.
(b) Nonionizing Radiations :
 Ultraviolet light rays, have longer wave lengths and carry much lower energy.
 Therfore, theier penetration power is much less than X-rays.
 In human beings, UV rays are often absorbed in the skin and the gonads remain unaffected.
 However, these can work on smaller objects like micro-organisms, pollens of plants or gametes
of animals.
 Noethling and Stubbe have worked out the effect of ultraviolet rays on pollen grains of Snap-
dragon (Antirrhinum). .
 Knopp studied the effects of UV radiations on the spermatozoa of little liverwort and Stadler and
Uber on corn pollen. .
Xeroderma Pigmentosum (Skin cancer):
 The UV rays are absorbed by nucleic acids and cause alterations in the bond characteristics of
pu-rines and pyrimidines.
 The bases so altered are knwon as photoproducts.
 Pyrimidines are more sensitive to such changes.
 Two adjacent pyrimidines of the same DNA strand are found to form covalent bonds forming
dimers. The thymine dimmer is formed most readily.
 Dimerization interferes with the proper base pairing of thymine with adenine and may result in the
pairing of thymine with guanine.
 This results in the substitution of T = A to CUG. Similarly, cytosine dimers cause mutations by
becoming deaminated to uracil dimers and produce G = C to A = T transition.
(ii) Chemical mutagens : Most powerful chemical mutagens are-
(a) Acridine compounds - Acroflavin and Proflavin, causes Frame shift mutation.
 Proflavin, acriflavin, euflavin and acridine are intercalated in between base pairs leading to
their insertion and deletion so as to cause frame-shift or gibberish mutations.
(b) Nitrous acid (HNO2) - causes transition.
 It deaminates cytosine to uracil, guanine to xanthin and adenine to hypoxanthin. This results in
replacement of A - T with H - C, C - G with U - A and C - X. Nitrous acid is a common industrial
chemical and preservative of meat products.
(c) Mustard Gas : 1st chemical mutagen (We came to know about). Discovered by Auerbach
and Robson.
(d) Colchinine - Cause Polyploidy.
(e) Streptomycin : Causes mutatation in cytoplasmic genes.
(f) Tetracyclins : Causes mutatation in prokaryotes.
(g) Alkylating Agents :
 They bring about methylation and ethylation of nitrogen bases, e.g. methyl guanine, ethyl gua-
nine.
 The alkylated base may slip out of DNA duplex or cause change of base pair, e.g. C - G to A - T.
 Alkylating agents includes – Ethyl ethane sulphonate (EES),
– Ethyl methane sulphonate (EMS),
– Diethyl sulphate (DES), Dimethyl nitrosamine (DMN),
– Nitrogen mustard, Ethyl dibromide, Endrin, Griseofulvin etc.
 Ethyl dibromide (EDB) is used in food preservation.
 Griseofulvin is common antifungafTnedicine.
 Endrin is an insecticide.
 Formaldehyde mutagenic in Drosophila.
 Organic peroxides mutagenic for fungus.
 Ferrous and mangneous salts highly mutagenic for bacteria.
(h) Base Analogues : 5-bromouracil (BU), 5-iodouracil (IU), 5-chlorouracil (CU) and 5-fluorou-
racil (FU) replace thymine and pair with guanine.
 2-aminopurine is incorporated in place of adenine with its tautomer pairing with cytosine.
 Enol state of thymine pairs with guanine.
 GENETICS 43

(i) L.S.D. (Lysergic acid dimethylamide):

 When ingested in moderate does not damage chromosomes, but large doses are considered to
be carcinogenic and tetratogenic.
 The sleeping pills made of thaliddomide, when taken by pregnant mothers results in the birth of
deformed new borns with no arms or with flipper.
 Photoreactivation : A. Kelner postulated the occurrence of an ‘error correcting mechanism.’
he observed that a large number of bacteria could survive large dose of UV radiation, if these
were exposed to an intense source of visible light.
 This phenomenon was called ‘photoreactivation.’
 During photoreactivation process, the enzyme is activated by the visible light.
 The enzyme cleaves the pyrimidine dimers, thereby restoring them to their original form.
 This repair process is enzyme-mediated and light dependent.
 Dark Reactivation : E. Witkin discovered the dark reactivation method of error correcting
mechanism which was not dependent on light. The dark reactivation mechnism involves the
removal of dimers from the irradiated DNA molecule.
NUCLEIC ACID
 Nucleic acid discovered by Friedrich Meischer, he called it nuclein.
 He discovered the nucleic acid in nucleus of pus cells.
 Term Nucleic acid given by Altmann
 Nucleic acid is of two types -
(i) DNA (Deoxyribonucleic acid)
(ii) RNA (Ribonucleic acid)
 Nucleic acids are polymers of Nucleotides and are macromolecules.
 Nucleotides consists of nucleosides and phosphate group.
 Nucleosides consists of Nitrogen base and Pento sugar.
 3 components of nucleotides = N2 base + Pentose sugar + phosphate group.
 N2 base are of two types -
(i) Purines (Adenine, Guanine)
(ii) Pyrimidines (Cytosine, Thymine, Uracil).
STRUCTURE OF DNA
 Molecular of structure of DNA at 1st studied by Wilkins , through X-ray Crystalography method.
 Double helix model of DNA proposed by Watson and Crick work published in Nature in 1953.
 All three got Nobel prize in 1962.
 DNA consists of two anti-parallel polynucleotide chains (direction of phosphodiester bonds is
opposite tc each other in both chains of DNA).
 One polynucleotide chain of DNA has 5' to 3' direction and other polynucleotide chain of DNA has
3' to 5' direction.
 Back bone of DNA consists of pentose sugar and pohsphate group.
 Both chains of DNA are helically coiled.
 Structure of DNA has step - ledder pattern.
 Steps of DNA consists of Nitrogen base pair.
 Distance between two N2 base pair = 3.4 A.
 Diameter (distance between two phosphate group of both chains of DNA) = 20A.
 Adenine combines with Thymine with 2 hydrogen bonds and length of bond = 3A.
 Guanine combines with Cytosine with 3 H - bonds and length of bond = 2.8 A.
 Helix length (length of each turn of DNA) = 34A. ?
 One helix length consists of 10 pairs of nucleotides.
Two types of DNA :
(i) Right handed DNA (ii) Left handed DNA
(i) Right handed DNA :
 When direction of turn of DNA is clockwise, then it is called right handed DNA.
 GENETICS 44

 It is of four types :
(i) A-DNA (ii) B-DNA
(iii) C-DNA (iv) D-DNA

Type Diameter No. of base pair Length of Helix

A-DNA 23 Å (Widest DNA) 11 28 Å
B-DNA 20 Å 10 34 Å
C-DNA 19 Å 9.33 31 Å
D-DNA 19 Å 8 24.2 Å

 Most stable DNA  B - DNA

 Stability of DNA depends on 2 things -
(i) Salt concentration
(ii) Humidity
 B - DNA is Maintaioned by
(i) High salt conecntration
(ii) More than 92% Humudity.
(ii) Left handed DNA :
 It has only one type - e.g. Z - DNA.
 In Z - DNA, direction of turn of DNA is anticlockwise.
 Left handed DNA is the longest DNA.
 Helix length of Z - DNA = 45A.
 Diameter of Z - DNA = 18 A (it is thinnest DNA).
 Number of base pair in helix length of Z - DNA =12.
 Z - DNA discovered by Rich.
Pallindromic - DNA (MADAM I M ADAM - DNA):
5' 3'
NAVIN
“ NAVIN ” NAVIN
3' 5'
When both chains of DNA have same sequence of nitrogen bases, then it is called pallindromic
DNA.
GG CC AT GG CC
---------------------------------------------------------------------------------------------------
---------------------------------------------------------------------------------------------------
CC GG TA CC GG
CHARGAFF’S RULE :
 Double stranded DNA and double stranded RNA follow the Chargaff s rule.
 It states - (i) Molar concentration of Adenine = Molar concentration of Thymine.
(ii) Molar concentration of Guanine = Molar concentration of Cytosine.
(iii) Number of phosphate grops = Number of molecules of Deoxyribose.
AT
(iv) Base ratio = = constant (Specific) for each.
GC
(Each bases is specific for each species).
 Base ratio of human liver cells = 1.53.
 Base ratio of a simple bacterium = 0.8.
 Eucaryotic or Higher organism have base ratio more than 1.
 Procaryotic or lower or primitive organisms have base ratio less than 1.
 In prokaryotic cells, DNA is of G - C type (Guanine and Cytosine N2 bases are more in amount).
 GENETICS 45

 In eukaryotic cells, DNA is of A - T type (Adenine and Thymine N2 bases are more in amount).
 Single stranded DNA does not follow Chargaff s Rule.
 GENETICS 46

Exercise : II

78. The first codon discovered by Nirenberg and Mathaei was (A.M.U. 1989, 1999)
(A) GGG (B) CCC (C) UUU (D) AAA
79. The process of transfer of genetic information from DNA to RNA/formation of RNA from DNA
is (D.P.M.T. 1986, C.P.M.T. 1990, C.B.S.E. 1991, M.P.P.M.T. 1994, 1997, A.M.U. 1998)
(A) Transvevsion (B) Trnascription (C) Translation (D) Translocation
80. Nobel Prize for one gene one enzyme hypothesis was given to (B.H.U. 1992)
(A) Watson and Crick (B) Sutton and Boveri
(C) Avery et al (D) Beadle and Tatum
81. Escherichia coli fully labelled with N is allowed to grow in 14N medium. The two strands of DNA
15

molecule of the first generation bacteria have (C.B.S.E. 1992)

(A) Different density and do not resemble parent DNA
(B) Different density but resemble parent DNA
(C) Same density and resemble parent DNA
(D) Same density but do not resemble parent DNA.
82. One gene one enzyme hypothesis was proposed by (B.H.U. 1984, 1995, 1996,
C.P.M.T. 1991, 1994, 1995, M.P.P.M.T. 1996, D.P.M.T. 1997, 2001, 2002 J.K.C.M.E.E. 2000)
(A) Jacob aid Monod (B) Beadle and Tatum
(C) Watson and Crick (D) Garrod and Jensen.
83. Initiation codon of protein synthesis (in eucaryotes) is (A.I.LM.S. 1986,
C.B.S.E. 1993, 1994, 1999, 2000: M.P.P.M.T. 2001, Kerala 2001, 2002, 2004 D.P.M.T. 2003)
(A) GUA (B) GCA (C) CCA (D) AUG
84. Genetic code was discovered by (B.H.U. 1984, 1987, M.P.P.M.T. 1990, 1996, A.M.U. 1999)
(A) Nirenberg and Mathaei (B) Nirenberg and Holley
(C) Holley and Ochoa (D) Holley, Nirenberg and Khorana.
85. DNA polymerase helps in (B.H. U. 1987)
(A) Splitting of two DNA strands (B) Proof reading of DNA
(C) Renaturation of DNA (D) Joining monomers of DNA.
86. Semiconservative DNA/chromosome replication using 15N was demonstrated by
(D.P.M.T. 1981, 1996, M.P.P.M.T. 1993,
1994, A.I.I.M.S. 1994,A.M.U. 1998, B.H.U. 1997, C.E.TChd. 1997, H.P.P.M.T. 2001, B.V. 2003)
(A) Meselson (B) Taylor (C) Meselson and Stahl (D) Hershey and Chase
87. DNA having labelled thymidine is allowed to replicate in medium having non-radioactive thymi-
dine. After three duplication, the DNA molecules having labelled thymidine shall be
(A.I.I.M.S. 1980)
(A) One molecule (B) Two molecules (C) Four molecules (D) Eight molecules.
88. Transcription involves (A.I.I.M.S. 1984)
(A) Synthesis of RNA over DNA (B) Joining of amino acids in a polypeptide
(C) Synthesis of RNA over ribosome (D) Synthesis of DNA
89. DNA replication requires (B.H.U. 1983, C.P.M.T. 1994)
(A) DNA polymerase (B) RNA polymerase and translocase
(C) DNA ligase (D) DNA polymerase and DNA ligase
90. Ligase is an enzyme required for (B.H.U. 1985, 1994, A.H.M.S. 1994)
(A) Breaking of DNA (B) Joining DNA bits
 GENETICS 47

(C) Renaturation of DNA (D) Proof reading.

91. Polypeptide chain is initiated by (AMU. 1997)
(A) Glycine (B) Leucine (C) Methionine (D) Lysine.
92. Information flow or central dogma of modern biology is
(B.H.U. 1985, Kerala 2000, Orissa 2003, AM.U. 2003)
(A) RNA — Proteins — DNA (B) DNA RNA — Proteins
(C) RNA — DNA — Proteins (D) DNA — RNA — Proteins.
93. DNA duplication or multiplication is known as (A.F.M.C. 1984, C.PM.T. 1998, AM.U. 2001)
(A) Replication (B) Transcription (C) Transduction (D) Translation.
94. Process of protein synthesis in a cell is (C.PM.T. 1985)
(A) Translocation (B) Translation (C) Transcription (D) Transduction
95. The one which is capable of self replication is (C.PM.T. 1988)
(A) DNA (B)RNA (C) Enzyme (D) Protein.
96. The two strands of DNA are held together by
(B.H.U. 1991, Manipal 1997, A.I.IM.S. 1999, M.P.PM.T. 2001)
(A) Peptide bonds (B) Phosphodiester bonds (C) Hydrogen bonds (D)S-S bonds
97. Degeneracy of genetic code was discovered by (B.H.U. 1986)
(A) Khorana (B) Ochoa (C) McClintock (D) Bernfield and Nirenberg
98. Usual method of DNA replication is
(C.PM.T. 1985, Orissa J.E.E. 1995, A.U.M.S. 1997, M.P.PM.T. 1997)
(A) Semiconservative (B) Conservative (C) Dispersive (D) Nonconservative
99. Escherichia coli with completely radioactive DNA was allowed to replicate in non-
radioactive medium for two generations. Percentage of bacteria with radioactive DNA
is (A.I.I.M.S. 1985)
(A) 100% (B) 50% (C)25% (D)12-5%
100. DNA replication in eucaryotes commences (B.H.U. 1990)
(A) From both ends of a chromosome simultaneously
(B) Several sites along DNA of a chromo-some simultaneously.
(C) From centromere to either end
(D) From one end of chromosome to the other.
101. DNA replication is (C.B.S.E. 1989, 2000, M.P.P.M.T. 1999)
(A) Conservative and discontinuous
(B) Semiconservative and semidiscontinuous
(C) Semiconservative and discontinuous
(D) Conservative.
102. In vitro synthesis of RNA and DNA was carried out respectively first by (B.H.U. 1986)
(A) Kornberg and Nirenberg (B) Ochoa and Kornberg
(C) Ochoa and Nirenberg (D) Nirenberg and Khorana.
103. Genetic code consists of (C.B.S.E. 1988)
(A) Adenine and guanine (B) Cytosine and uracil
(C) Cytosine and guanine (D) All the above
104. Genetic code determines (C.P.M.T. 1983)
(A) Sequence of amino acids in protein chain (B) Variations
 GENETICS 48

(C) Constancy of morphological traits (D) Structural pattern

105. First deciphering of genetic code through trinucleotide synthesis was performed by
(M.P.P.M.T. 1990)
(A) Beadle and tatum (B) Watson and Crick (C) Nirenberg (D) Ochoa
106. Initiation of polypeptide chain is through (A.I.I.M.S. 1985)
(A) Lysine (B) Glycine (C) Leucine (D) Methionine
107. Codon of mRNA and anticodon of tRNA is made of (A.F.M.C. 1987)
(A) A set of three out of U, A, C and G (B) A set of three and two respectively
(C) A set of two nitrogen bases (D) Three and one nitrogen bases respectively
108. Antibiotic inhibiting translation in eucaryotes is (M.P.P.M.T. 1990)
(A) Tetracycline (B) Puromycin (C) Penicillin (D) Chloromycetin
109. Who established that RNA can be genetic material ? (M.P.P.M.T. 1986)
(A) Griffith (B) Conrat (C) Lederberg (D) Nirenberg and Mathaei.
110. Genetic code is said to be degenerate because (Bih. P.M.T. 1988, A.M.U. 2001)
(A) Codons degenerate very quickly
(B) One amino acid is coded by more than one codon
(C) One codon codes for more than one amino acid
(D) None of the above
111. Nirenberg synthesised an RNA having 34 adenine residues (AAAA...) and obtained a polypeptide
of 11 lysine residues. It proved that genetic code for lysine is (R.P.M.T. 1991)
(A) Adenine (B) AA (C) AAA (D) AAAA....A
112. Khorana et al synthesised RNA with copolymer of UGUGUGUGUG... It produced a
peptide with alternate cysteine and valine. The codons for the two are (A.I.I.M.S. 1987)
(A) UGU and GUG (B) UUG and GGU (C) GUG and UGU (D) UGG and GUU.
113. Who proposed that genes control production of enzymes ? (C.P.M.T. 1991)
(A) R.D. Kornberg (B) Beadle and Tatum (C) A.E. Garrod (D) T.H. Morgan.
114. Genes are formed of (C.P.M.T. 1985)
(A) RNA (B) DNA (C) DNA and RNA (D) DNA and proteins.
115. Gene is a (D.P.M.T. 1985)
(A) Segment of DNA (B) Segment of chromosome
(C) Functional unit of DNA (D) DNA segment capable of crossing over.
116. Functional unit of gene that specifies synthesis of one polypeptide is
(B.H.U. 1991, M.P.P.M.T. 2001)
(A) Codon (B) Cistron (C) Recon (D) Muton.
117. Regulator gene controls chemical synthesis (Operon concept) by (A.I.I.M.S. 1982, 1985)
(A) Inhibiting transcription of wiRNA (B) Inhibiting enzymes
(C) Inhibiting passage of mRNA (D) Inhibiting substrate enzyme reaction.
118. In operon concept, the operator gene combines with (A.I.I.M.S. 1986)
(A) Regulator protein to switch off structural gene transcription
(B) Regulator protein to switch on structural gene transcription
(C) Inducer to switch off structural gene transcription
(D) Regulator gene to switch off structural gene transcription
119. The terms cistron, recon and muton were proposed by (D.P.M.T. 1987)
(A) Johannsen (B) Morgan (C) Lederberg (D) Benzer
 GENETICS 49

120. Smallest segment of DNA capable of undergoing crossing over and recombination is
(A.P.M.E.E. 1980)
(A) Muton (B) Cistron (C) Recon (D) Intron.
121. Biologically functional tyrosine suppressor fRNA of Escherichia coli synthesised by Khorana in
1979 had (A.I.I.M.S. 1990, R.P.M.T. 1991)
(A) 333 nucleotides (B) 312 nucleotide pairs
(C) 207 nucleotide pairs (D) 77 nucleotide pairs
122. In operon model, RNA polymerase binds to (B.H.U. 1985,A.I.E.E.E. 2003)
(A) Structural gene (B) Promoter gene (C) Regulator (D) Operator gene.
123. A gene which synthesises a repressor protein is (C.P.M.T. 1991)
(A) Operator gene (B) Structural gene (C) Promoter gene (D) Regulator gene.
124. The term gene was coined by (J.I.P.M.E.R. 1991, Orissa 2003)
(A) Me Clintock (B) Morgan (C) Johannsen (D) De Duve.
125. Khorana first deciphered the triplet codons of (C.B.S.E. 1992)
(A) Serine and isoleucine (B) Cysteine and valine
(C) Tyrosine and tryptophan (D) Phenylalanine and methionine.
126. In the genetic dictionary, there are 64 codons as (C.B.S.E. 1990)
(A) 64 amino acids are to be coded (B) 64 types of fRNAs are present
(C) There are 44 nonsense codons and 20 sense codons
(D) Genetic code is triplet
127. An anticodon of fRNA can recognise more than one codon of mRNA. It is (A.I.I.M.S. 1990)
(A) Wobble hypothesis (B) Gene flow hypothesis
(C) Template hypothesis (D) Richmond and Lang effect.
128. Wobble hypothesis establishes (A.I.I.M.S. 1991)
(A) Peptide chain formation (B) Initiation of peptide chain
(C) Termination of peptide chain (D) Economy in (RNA molecules.
129. Enzyme required for transcription is (B.H.U. 1991, M.P.P.M.T. 2001.A.M.U. 2003)
(A) RNA-ase (B) Endonuclease (C) RNA polymerase (D) DNA polymerase.
130. Nonsense codon takes part in (A.I.I.M.S. 1985, D.P.M.T. 2001)
(A) Terminating message of gene controlled protein synthesis
(B) Formation of unspecified amino acids
(C) Conversion of sense DNA into non-sense one
(D) Releasing fRNA from polypeptide chain.
131. Termination of polypeptide chain is brought about by (A.I.I.M.S 1983,
C.B.S.E. 1996, 1997, Pb. P.M.T. 1997, D.P.M.T. 1999, Kamataka 1997, Kerala 2000, 2003)
(A) UUG, UAG and UCG (B) UAA, UAG and UGA
(C) UUG, UGC and UCA (D) UCG, GCG and ACC.
132. Synthesis of DNA over RNA template/teminism occurs in (A.I.I.M.S. 1988)
(A) TMV (B) Reovirus (C) Rous Sarcoma Virus (D) T2.
133. Experimental material in the study of DNA replication has been (C.B.S.E. 1992)
(A) Escherichia coli (B) Neurospora crassa
(C) Pneumococcus (D) Drosophila melanogaster.
134. Site of fRNA that binds to mRNA molecule is (M.P.P.M.T. 1993)
 GENETICS 50

(A) 3’end (B) 5’end (C) Codon (D) Anticodon

135. Find out the correct answers out of the following discoveries (M.P.P.M.T. 1993)
1. Griffith — Transformation 2. Gamow—Triplet code 3. Miescher —Nucleic acid
(A) 1, 2 and 3 correct (B) 1 and 2 correct, 3 false
(C) 1 correct, 2 and 3 false (D) 1 and 3 correct, 2 false
136. Nucleotide arrangement in DNA can be seen by (C.B.S.E. 1993)
(A) X-ray crystallography (B) Electron microscope
(C) Ultracentrifuge (D) Light microscope
137. A DNA with unequal nitrogen bases would most probably be (C.B.S.E. 1993)
(A) Single stranded (B) Double stranded (C) Triple stranded (D) Four stranded.
138. Pneumococcus experiment proved that (A.F.M.C. 1993)
(A) Bacteria do not reproduce asexually (B) Bacteria undergo binary fission
(C) DNA is genetic material
(D) RNA may sometimes control production of DNA and proteins
139. Select correct/incorrect functions (M.P.P.M.T. 1993)
1. Ligase—Joins short DNA segments
2. DNA Polymerase-Cuts DNA at specific sites
3. Helicase — Breaks H-bonds between complementary DNA strands
(A) 1, 2 and 3 correct (B) 1 correct, 2 and 3 false
(C) 1 and 3 correct, 2 false (D) 1 and 2 correct, 3 false.
140. The process of translation is (C.B.S.E. 1993, Pb. P.M.T. 1998)
(A) Ribosome synthesis (B) Protein synthesis
(C) DNA synthesis (D) RNA synthesis.
141. During DNA replication, the strands separate by (C.B.S.E. 1993, D.P.M.T. 2001)
(A) DNA polymerase (B) Topoisomerase (C) Unwindase/Helicase (D) Gyrase.
142. Because most of the amino acids are represented by more than one codon, the genetic
code is (C.B.S.E. 1993)
(A) Overlapping (B) Wobbling (C) Degenerate (D) Generate.
143. Who proved that DNA is basic genetic material ? (C.B.S.E. 1993)
(A) Griffith (B) Watson (C) Boveri and Sutton (D) Hershey and Chase.
144. The transforming principle of Pneumococus as found out by Avery, MacLeod and McCarty was
(C.B.S.E. 1993, J.I.P.M.E.R. 2000)
(A) mRNA (B) DNA (C) Protein (D) Polysaccharide.
145. Information transfer from RNA to DNA is (M.P.P.M.T. 1994)
(A) Transcription (B) Translation (C) Replication (D) Reverse transcription
146. Double stranded DNA virus with 20,000 base pairs has nucleotides (M.P.P.M.T. 1994)
(A) 20,000 (B) 10,000 (C) 666 (D) 40,000.
147. A DNA nucleotide chain has AGCTTCGA sequence. The nucleotide sequence of other chain
would be (B.H.U. 1994, D.P.M.T. 2003)
(A) TCGAAGCT (B) GCTAAGCT (C) TAGCATAT (D) GATCCTAG.
148. Eukaryotes differ from prokaryotes in mechanism of DNA replication due to (B.H.U. 1994)
(A) Different enzymes for opening of strands
(B) DNA primers instead of RNA primers
(C) Unidirectional rather than bidirectional
 GENETICS 51

(D) Discontinuous rather than semidiscontinuous

149. Protein helping in opening of DNA double helix in front of replication fork is (C.B.S.E. 1994)
(A) DNA gyrase (B) DNA polymerase I (C) DNA ligase (D) DNA topoisomerase.
150. Which is not involved in protein synthesis ? (C.B.S.E. 1994)
(A) Transcription (B) Initition (C) Elongation (D) Termination.
151. Transcription involves synthesis of (C.P.M.T. 1994, J.I.P.M.E.R. 1997, M.P.P.M.T. 1998)
(A) DNA (B) fRNA (C) wRNA (D) rRNA.
152. Characters are transferred from parents to progeny through (J.K.M.C.E.E. 1994)
(A) DNA (B) RNA (C) Protein (D) Phospholipid.
153. Circular DNA is present in (J.K.M.C.E.E. 1994)
(A) E.R. and ribosomes (B) Ribosomes and chloroplasts
(C) Ribosomes and mitochondria (D) Mitochondria and chloroplasts.
154. A functional unit in synthesis of protein is (M.P.P.M.T. 1994)
(A) Lysosome (B) Peroxisome (C) Polysome (D) Dictyosome.
155. Arrangement of three successive bases in genetic code signifies (M.P.P.M.T. 1994)
(A) Protein (B) Amino acid (C) Nucleic acid (D) Plasmid.
156. DNA template sequence of CTGATAGC is transcribed over wRNA as
(C.B.S.E. 1994, Uttaranchal 2001)
(A) GUCTUTCG (B) GACUAUCG (C) GAUTATUG 1(D) UACTATCU.
157. Genes connected with cancer are (M.P.P.M.T. 1993)
(A) Cancer genes (B) Carcinoma genes (C) Oncogenes (D) Sex-linked genes.
158. Operon model of gene regulation and organisation of procaryotes was proposed by
(M.P.P.M.T. 1993, 2000, 2001, Orissa2003, J.K.C.M.E.E. 2004)
(A) Messelson and Stahl (B) Wilkins and Franklin
(C) Beadle and Tatum (D) Jacob and Monod.
159. Smallest gene affected by mutation is (A.F.M.C. 1993)
(A) Muton (B) Cistron (C) Recon (D) Exon
160. Genes regulate growth and differentiation through (M.P.P.M.T. 1994)
(A) Transcription and translation (B) Transduction and translation
(C) Transformation (D) Translation
161. In Escherichia coli, lac operon is induced by (C.B.S.E. 1994)
(A) Lactose (B) Promoter gene (C) -galactosidase (D) I-gene
162. Reverse transcriptase is (C.B.S.E. 1994, Orissa 2003)
(A) RNA dependent RNA polymerase (B) DNA dependent RNA polymerase
(C) DNA dependent DNA polymerase (D) RNA dependent DNA polymerase.
163. In some viruses RNA is present instead of DNA indicating that (C.B.S.E. 1995)
(A) Their nucleic acid must combine with host DNA before replication
(B) They cannot replicate
(C) There is no hereditary informatio
(D) RNA can act to transfer heredity
164. Lac operon is (C.B.S.E. 1995)
(A) Arabinose operon (B) Repressible operon
(C) Inducible operon (D) Overlapping genes
 GENETICS 52

165. Wild type Escherichia coli growing on medium having glucose is transferred to lactose
containing medium. Which change occurs ? (C.B.S.E. 1995, D.P.M.T. 2003)
(A) Lac operon is induced (B) Lac operon is suppressed
(C) All operons are induced (D) The bacterium stops dividing.
166. In split genes, the coding sequences are called (C.B.S.E. 1995)
(A) Exons (B) Introns (C) Cistrons (D) Operons.
167. The number of base substitution possible in amino acid codons is (C.B.S.E. 1994)
(A) 261 (B) 264 (C) 535 (D) 549.
168. Watson and Crick are known for their discovery that DNA is (M.P.P.M.T. 1995)
(A) Single stranded (B) Double stranded
(C) Having deoxyribose only (D) Template for rRNA synthesis.
169. Base sequence on one strand of DNA is GCATG. Replicated complementary strand has
(M.P.P.M.T. 1995)
(A) GCATG (B) GCATC (C)CGTAC (D)ATGCG
170. Double hydrogen bonds occur in DNA between (Bih. P.M.T. 1995)
(A) Adenine and Thymine (B) Uracil and Thymine
(C) Adenine and Guanine (D) Thymine and Cytosine
171. Nucleic acids are made of (R.P.M.T. 1995)
(A) Nucleotides (B) Nucleosides (C) Amino acids (D) Proteins.
172. Hydrogen bonds between cytosine and guanine are (R.P.M.T. 1995, 1996)
(A) 1 (B) 2 (C) 3 (D) 4
173. Double helix DNA structure was proposed by
(OrissaJ.E.E. 1995, R.P.M.T. 1996. M.P.P.M.T. 2002, J.K.C.M.E.E. 2002)
(A) Beadle and Tatum (B) Schleiden and Schwann
(C) Watson and Crick (D) Hooke and Huxley.
174. The codon for anticodon 3' UUUA-5' is (B.H.U. 1995, 2000)
(A) 5' AAAU-3' (B) 5' UAAA-3' (C)3’UAAD-5' (D) 3' AAAU-5'.
175. Environmental agent triggering transcription from an operon is (C.B.S.E. 1995)
(A) Inducer (B) Regulator (C) Derepressor (D) Controlling factor.
176. Nuclear DNA sends information for protein synthesis through (C.P.M.T. 1995, 1997)
(A) fRNA (B) wRNA (C) rRNA (D) All the above.
177. Coded information in nucleic acid depends . upon (R.P.M.T. 1995)
(A) Arrangement of nucleotides (B) Position of nucleotides
(C) Number of nucleotides (D) All the above
178. RNA polymerase (Ochoa 1953) has polypeptide chains (H.P.M.T. 1994)
(A) 1 (B) 2 (C) 4 (D) 5.
179. DNA strand with nitrogen base sequence ATTGCC will have sequence in mRNA
(Manipal 1995, Kerala 2004)
(A) UAACGG (B) ATCGCC (C) ATTGCA (D) UGGACC.
180. DNA sequence of ATTCGATG is transcribed as (C.B.S.E. 1995, 2004)
(A) AUUCGAUG (B) UAAGCUAC (C) CAUCGAAU (D) GUAGCUUA.
181. Cytosine base inserted in the beginning of DNA codons ATGATGATG will produce
(C.B.S.E. 1995)
 GENETICS 53

(A) C ATG ATG ATG (B) CAT GAT GAT G (C) CA TGA TGA TG (D) Nonsense mutation.
182. Virus can survive in (A.P.M.E.E. 1995)
(A) Soil (B) Air (C) Water (D) Living tissue.
183. Central dogma of modern genetics is (H.P.M.T. 1994)
(A) RNA — RNA — DNA — Protein (B) DNA — DNA — RNA — Protein
(C) DNA — RNA — Protein (D) RNA — DNA — RNA — Protein.
184. Circular DNA is found in (M.P.P.M.T. 1995, 1998, C.B.S.E. 1999)
(A) Viruses (B) Bacteria, chloroplasts and mitochondria
(C) Chloroplasts and mitochondria alone (D) All the above.
185. Okazaki segments are formed during (C.B.S.E. 1996, J.I.P.M.E.R. 1996)
(A) Transduction (B) Transcription (C) Replication (D) Translation.
186. The enzyme taking part in joining two ends of DNA is (C.B.S.E. 1996)
(A) Ligase (B) Polymerase (C) Gyrase (D) Helicase.
187. Which one is not true ? (R.P.M.T. 1996)
(A) A = T, G = C (B) A = G,T = C (C) C = G, T = A (D) G = C, A = T.
188. What is true of Watson and Crick’s model of DNA. It is duplex with (R.P.M.T. 1996, B.V. 2000)
(A) 10 base pairs and 34 A distance for every turn
(B) 10 base pairs and 3-4 A distance for each turn of spiral
(C) 20 base pairs and 34 A for each turn
(D) None of the above.
189. Who proposed central dogma ? (R.P.M.T. 1996)
(A) Watson and Crick (B) Beadle and Tatum (C) Klug (D) Crick.
190. Nucleotide base present in DNA and not in RNA is (R.P.M.T. 1996, A.F.M.C. 1997)
(A) Cytosine (B) Uracil (C) Thymine (D) Guanine.
191. Hereditary information is indicated by (R.P.M.T. 1996)
(A) Number of nucleic acids (B) Position of nucleic acids
(C) Sequence of nucleic acids (D) All the above.
192. Pyrimidine base present in RNA in place of thymine of DNA is
(C.P.M.T. 1996, C.B.S.E. 1996, A.I.I.M.S. 2001)
(A) Uracil (B) Adenine (C) Cytosine (D) Guanine
193. What is correct for protein synthesis ? (C.P.M.T. 1996)
(A) Code transfer on mRNA (B) Code transfer on fRNA
(C) Coding is done by DNA strands (D) DNA coding takes place in antiparallel fashion.
194. RNA contains (Kam. 1994, A.I.I.M.S. 1996, J.I.P.M.E.R. 1998)
(A) Hexose (B) Ribose (C) Fructose (D) Glucose.
195. Triplet codon refers to sequence of three bases on (A.I.I.M.S. 1996)
(A) mRNA (B) fRNA (C) tRNA (D) All the above.
196. Genetic code was discovered by frameshift mutation by (D.P.M.T. 1996)
(A) Crick (B) Watson (C) Franklin (D) Khorana.
197. Maximum formation of RNA occurs in (C.B.S.E. 1996, R.P.M.T. 1998)
(A) Cytoplasm (B) Nucleoplasm (C) Nucleolus (D) Ribosome.
198. Protein cover of virus is (A.P.M.E.E. 1996, C.P.M.T. 1996, Pb. P.M.T. 1999)
(A) Capsid (B) Virion (C) Viroid (D) Mucopeptide.
 GENETICS 54

199. Who synthesised the first artificial gene ? (R.P.M.T. 1996)

(A) Morgan (B) Nirenberg (C) Khorana (D) Mendel.
200. Products of one gene required to activate another gene are called (C.B.S.E. 1997)
(A) Catalases (B) Coenzymes (C) Episomes (D) Transcription factors.
201. Operator gene of lac-operon is turned on when lactose molecules bind to (Karnataka 1997)
(A) Promoter site (B) wiRNA (C) Operator gene (D) Regulator gene.
202. Point mutation is (M.P.P.M.T. 1995)
(A) Loss of gene (B) Change in base of gene
(C) Addition of a gene (D) Deletion of a segment of gene.
203. A mutation at one base of first codon of a gene forms a nonfunctional protein. It is
(C.B.S.E. 1997)
(A) Nonsense mutation (B) Reverse mutation
(C) Frame shift mutation (D) Mis-sense mutation
204. Taylor demonstrated chromosome replication to be semiconservative in (B.H.U. 1997)
(A) Vicia faba (B) he La cell (C) Pea (D) Mouse liver cell.
205. Process of altering code in DNA where message is reversed is (A.F.M.C. 1997)
(A) Deletion (B) Insertion (C) Inversion (D) Translocation.
206. A gene is (Pb.P.M.T. 1998)
(A) Three letter code in DNA
(B) Equivalent to chromosome
(C) Part of chromosome producing a set of enzymes (protein)
(D) Part of chromosome producing only one enzyme (protein).
207. Transition mutation is due to replacement of (M.P.P.M.T. 2000)
(A) GC by TA (B) AT by CG (C)CGbyGC (D) AT by GC.
208. Which step of translation does not consume high energy phosphate bond ? (C.B.S.E. 1997)
(A) Translocation (B) Peptidyl transferase reaction
(C) Amino acid activation (D) Aminoacyl fRNA binding to A-site.
209. DNA synthesis can be measured by estimating incorporation of radio-labelled (C.B.S.E. 1997)
(A) Uracil (B) Ribose sugar (C) Thymidine (D) Adenine
210. RNA that picks up specific amino acid from amino acid pool of cytoplasm to carry it to ribosome
during protein synthesis is (C.B.S.E. 1997, A.I.I.M.S. 1998)
(A) tRNA (B) mRNA (C) rRNA (D) gRNA.
211. DNA duplex shows (B.H.U. 1997)
(A) Right handed coiling and parallel (B) Right handed coiling and antiparallel
(C) Left .handed coiling and antiparallel (D) Left handed coiling and parallel.
212. mRNA is polymer of (M.P.P.M.T. 1997)
(A) Ribonucleotides (B) Deoxyribonucleotides
(C) Ribonucleosides (D) Deoxyribonucleosides
213. tRNA recognises ribosome by (Pb.P.M.T. 1997)
(A) T C loop (B) DHU loop (C) Anticodon (D) AA-site.
214. rRNA recognises amino acyl synthetase enzyme by (J.I.P.M.E.R. 1997)
(A) Anticodon (B) DHU loop (C) T C loop (D) AA-site.
215. Enzyme required for removing RNA primer during DNA replication is (D.P.M.T. 1997)
 GENETICS 55

(A) Primase (B) Ligase (C) DNA polymerase I (D) DNA polymerase III
216. Which one is involved in DNA repair ? (A.M.U. 1997)
(A) Ligase (B) Primase (C) DNA polymerase III (D) DNA polymerase I
217. Double chained DNA strand is made radioactive in both its chains. It is allowed to replicate
twice in non-radioactive medium. The result would be (C.B.S.E. 1997)
(A) All strands have radioactivity (B) Half the strands have radioactivity
(C) Three strands have radioactivity (D) Radioactivity is absent in all strands.
218. Who made discovery for genetic engineering ? (D.P.M.T. 1997)
(A) Morgan (B) Watson (C) Crick (D) Khorana.
219. Experimental evidence supporting concept of triplet genetic code was first provided by
(A.I.I.M.S. 1997)
(A) Beadle and Tatum (B) Watson (C) Crick (D) Michaelis and Menten.
220. Hargobind Khorana is known for (J.I.P.M.E.R. 1996, Manipal 1997)
(A) Discovery of DNA (B) Discovery of DNA ligase
(C) Discovery of fRNA (D) Synthesis of proteins.
111. Amino acid binding site of fRNA is (Karnataka 1997)
(A) 5' end (B) Anticodon loop (C) DHU loop (D) - CCA 3' end.
222. In a DNA molecule cytosine is18%. Percentage of adenine would be (Karnataka 1997)
(A) 32% (B) 64% (C) 36% (D) 18%
223. Which one is DNA nitrogen base with single ring structure ? (Pb.P.M.T. 1997)
(A) Uracil (B) Thymine (C) Adenine (D) Guanine.
224. Genetic code translates the language of (J.I.P.M.E.R. 1997)
(A) Amino acids into that of RNA (B) RNA into that of protein
(C) Protein into that of DNA (D) RNA into that of DNA
225. A sequence of 3 bases on fRNA which binds to mRNA codon is (M.P.P.M.T. 1998)
(A) Triplet (B) Nonsense codon (C) Anticodon (D) Termination codon.
226. X-ray diffraction shows DNA diameter to be (M.P.P.M.T. 1998)
(A) 10A (B) 40A (C) 30A (D)20A
227. DNA is present in (M.P.P.M.T. 1998)
(A) Nucleus (B) Chloroplasts (C) Mitochondria (D) All the above.
228. Determination of one amino acid by more than one codon is due to (M.P.P.M.T. 1998)
(A) Redundancy of genetic code (B) Continuous nature of genetic code
(C) Punctuation in genetic code (D) Universal nature of genetic code.
229. The processes by which DNA forms mRNA and mRNA forms protein are respectively
(M.P.P.M.T. 1998)
(A) Translation and transcription (B) Transcription and replication
(C) Transcription and translation (D) Replication and translation.
230. The element of bacterial transformation was discovered by (M.P.P.M.T. 1998)
(A) Beadle and Tatum (B) Avery ei al (C) Khorana (D) Robert Brown
231. In which of the following will DNA melt at the lowest temperature (B.H.U. 1998)
(A) 5'-AATAAAGC-3' 3'- TTATTTCG-5' (B) 5'- AATGCTGC-3' 3'-TTACGACG-5'
(C) 5'-ATGCTGAT-3' 3'-TACGACTA-5' (D) 5'-GCATAGCT-3' 3'-CGTATCGA-5'
232. Isotopes used in proving semi-conservative replication of DNA were (B.H.U. 1998)
 GENETICS 56

(A)14N,14C (B)14C,31P (C) 14N, 15N (D) 14N, 31P.

233. Arrangement of three bases in genetic code signify (AMU. 1998)
(A) Protein (B) Plasmid (C) Amino acid (D) Nucleic acid.
234. Enzyme catalysing synthesis of RNA over DNA template is (Pb. P.M.T. 1998, C.P.M.T. 2001)
(A) DNA polymerase (B) RNA polymerase (C) Reverse transcriptase (D) Endonuclease.
235. Correct base pairing in DNA molecule is (Pb. P.M. T.1998)
(A) Cytosine—Uracil (B) Adenosine — Thymine
(C) Thymine — Guanine (D) Thymine - Uracil
236. Eucaryotic genome differs from procaryotic genome in (C.B.S.E. 1998)
(A) DNA is circular and single-stranded in procaryotes
(B) Intervening sequences are present in eucaryotic DNA
(C) DNA is complexed with histones in procaryotes
(D) DNA is organised into operons in eucaryotes
237. Which is true according to Chargaff s rule ? (R.P.M. T. 1998)

AT
(A) A + G = T + C (B) A = C (C) G = T (D) =1
CG
238. fRNA takes part in (R.P.M.T. 1998)
(A) Transfer of genetic code to cytoplasm (B) Carry amino acids to ribosomes
(C) Collection of RNA in ribosome (D) Copy the genetic code from DNA in nucleus.
239. RNA code for DNA codon ATG will be (R.P.M.T. 1998)
(A) ATG (B) AUG (C) UAC (D) TAC
240. Successive nucleotides are covalently linked through
(C.P.M.T. 1999, D.P.M.T. 1999, A.F.M.C. 2001)
(A) Glycosidic bonds (B) Phosphodiester bonds
(C) Hydrogen bonds (D) Nitrogen bonds.
241. Genes regulate growth and differentiation through (AMU. 1998)
(A) Transformation (B) Translocation
(C) Translation and transduction (D) Transcription and translation.
242. Jacob and Monod won Nobel Prize for their work on (Pb. P.M.T. 1998)
(A) Operon model (B) Structure of gene (C) Genetic diseases (D) Function of gene.
243. Transposable elements (genes) were first discovered in
(A) Pea (B) Drosophila
260. Type of coiling in DNA is (M.P.P.M. T. 1999, 2000 )
(A) Right handed (B) Left handed (C) Zigzag (D) Opposite.
261. Reverse transcription was discovered by (M.P.P.M.T. 1999)
(A) Beadle and Tatum (B) Temin and Baltimore
(C) Watson and Crick (D)Khorana
262. Starting and stopping codons are (J.K.C.M.E.E. 1999)
(A) AUG and UGA (B) GUA and AAA (C) UCA and UAA (D) GUC and AUG
263. Polyribosomes are formed when ribosomes are connected by
(J.K.C.M.E.E. 1999, Kamataka 2002)
(A) rRNA (B) mRNA (C) rRNA (D) All the above
264. Which is true of DNA helicases ? (A.F.M.C. 1999)
 GENETICS 57

(A) Separate DNA strands and establish replication forks

(B) ATP requiring unwinding enzymes
(C) Hydrolyse ATP
(D) All the above
265. During elongation of polypeptide chain, sigma factor is (A.F.M.C. 1999)
(A) Functionless (B) Retained for specific function
(C) Released for re-use (D) Required during closing of chain.
266. DNA is associated with basic protein (D.P.M.T. 1999)
(A) Albumin (B) Globulin (C) Histone (D) Actin
267. In DNA replication, the leading strand is the one which replicates in
(D.P.M.T. 1999, Pb. P.M.T. 1999)
(A) 5 — 3 direction continuously (B) 3 — 5 direction continuously
(C) 5 — 3 direction discontinuously (D) 3 — 5 direction discontinuously
268. Semiconservative replication of DNA was demonstrated by (D.P.M.T. 1999, Bih. P.M.T. 2002)
(A) Khorana and Jolly (B) Watson and Crick
(C) Taylor and others (D) Meselson and Stahl.
269. Nucleotide constituents/nitrogen bases of RNA are (D.P.M.T. 1999, Kerala 2000)
(A) AGCU (B) TCXU (C)AGCT (D)CTAU
270. Hargobind Khorana was awarded Nobel Prize for (Pb. P.M.T. 1999)
(A) Deciphering genetic code (B) Artificial gene synthesis
(C) Nucleotide sequence of fRNA (D) Discovery of transposons.
271. rRNA has the function of (A.M.U. 1999)
(A) Transcription
(B) Adopter for attaching amino acids over mRNA template
(C) Transferring information to mRNA
(D) Carry genetic code to cytoplasm.
272. Genetic code determines (A.M.U. 1999)
(A) Morphological traits (B) Variations
(C) Sequence of amino acids in polypeptides (D) Structural pattern
273. Length of mRNA that carries information for complete polypeptide synthesis is (A.M.U. 1999)
(A) Muton (B) Codon (C) Operon (D) Cistron
274. During replication of DNA (A.M.U. 1999)
(A) The two daughter molecules develop from both the parental strands
(B) RNA functions as template
(C) One strand from parent and one strand freshly formed in the two daughter molecules
(D) One daughter receives both the parental strands while the other daugther receives newly
formed strands
275. With four bases the number of possible triplet codons is (A.M.U.1999)
(A) 24 (B) 32 (C) 48 (D) 64
276. Proteins are synthesised by the process (A.I.I.M.S. 1999)
(A) Transcription (B) Translation (C) Transduction (D) Translocation.
277. Correct sequence of code transfer during polypeptide formation is (A.I.I.M.S. 1999)
(A) DNA, mRNA, fRNA and amino acids (B) DNA, tRNA, rRNA and mRNA
 GENETICS 58

(C) mRNA, rRNA, DNA and amino acids (D) rRNA, DNA, mRNA and fRNA.
278. Nitrogen base not found in DNA is (M.P.PM.T. 2000, Pb. P.M.T. 2000)
(A) Cytosine (B) Guanine (C) Uracil (D) Adenine.
279. A strand of DNA has base sequence CAT GACTAG. The base sequence on the other strand
would be (M.P.P.M.T. 2000, B.H.U. 2001)
(A) CAT TAG GAC (B) GTA CTG ATC (C)GATGTCATC (D) TAC ACT GCT.
280. A nonsense/termination codon is
(M.P.P.M.T. 2000, H.P.P.M.T. 2001, C.E.T. Old. 2001, J.K.C.M.E.E. 2003)
(A) UUU (B) GCG (C) UAG/UAA (D) CCC
281. Transformation experiments in bacteria were first performed by
(M.P.P.M.T. 2000, Kerala 2000)
(A) Macleod (B) Griffith (C) Pasteur (D) Meselson and Stahl.
282. Site for protein synthesis is (C.B.S.E. 2000)
(A) Nucleus (B) Cytosol (C) Ribosome (D) Lysosome.
283. Length of one coil of B-DNA helix is (C.B.S.E. 2000)
(A) 0-34nm (B) 3-4nm (C) 10 nm (D) 20 nm
284. Three dimensional shape of fRNA is (C.B.S.E. 2000)
(A) L-shaped (B) Clover leaf-like (C) X-shaped (D) Y-shaped.
285. Similarity between DNA and RNA is that both have (CB.S.E. 2000)
(A) Similar sugars (B) Similar mode of replication
(C) Similar pyrimidines (D) Polymers of nucleotides.
286. Anticodon occurs in (C.B.S.E. 2000, M.P.P.M.T. 2002)
(A) tRNA (B) mRNA (C) mtDNA (D) rRNA
287. Formation of mRNA over DNA template is (J.K.C.M.E.E. 2000,
Kamataka 2000, J.I.P.M.E.R. 2000, D.P.M.T. 2001, M.H. 2001, M.P.P.M.T. 2002)
(A) Translation (B) Transcription
(C) Reverse transcription (D) Transduction.
288. Best method to determine paternity is (A.I.I.M.S. 2000)
(A) Protein analysis (B) Chromosome counting
(C) Gene counting (D) DNA finger printing.
289. Nucleic acids occur in (A.M.U. 2000)
(A) Viruses (B) Bacteria (C) Mammals (D) All forms of life.
290. Which nitrogen base is absent in RNA ? (A.M.U. 2000)
(A) Adenine (B) Cytosine (C) Thymine (D) Guanine.
291. Enzyme that catalyses union of DNA fragments is (Kerala 2000, C.B.S.E. 2002)
(A) Ligase (B) Polymerase (C) Helicase (D) Endonuclease
(E) Lipase
292. Purines of DNA are (BiharP.M.T. 2000, J.K.C.M.E.E. 2002)
(A) Adenine and cytosine (B) Adenine and guanine
(C) Thymine and guanine (D) Adenine and thymine.
293. Which one carries genetic message to ribosomes (Orissa 2000)
(A) fRNA (B) rRNA (C)roRNA (D)H/iRNA.
294. DNA replication (B.V.2000)
 GENETICS 59

(A) Begins at 5' end of chromosome

(B) Adds nucleotides in 3' — 5' sequence in new chain
(C) Proceeds 5' — 3' in new chain
(D) Both A and B
295. Given below are assertion and reason. Point out if both are true and reason is correct explanation
(A), both are true but reason is not correct explanation (B), assertion is true but reason is wrong
(C) and both are wrong (D). Assertion. Amber codon is a termination codon. Reason. If in an
mRNA termination codon is present, protein synthesis stops abruptly whether synthesis is com-
plete or not (Har. P.M.T. 2000)
(A) (B) (C) (D)
296. Codon AUG specifies (Kerala 2000)
(A) Methionine (B) Valine (C) Tyrosine (D) Phenylalanine
(E) Serine
297. Semiconservative mechanism of DNA was detected using (Kerala 2000)
32 15
(A) S 35
(B) 14
C (C) p (D) N
(E) 18
O
298. Enzyme required for peptide formation is (Kerala 2000)
(A) Peptidise (B) Peptidyl transferase (C) Protease
(D) Nitrate reductase (E) Nitrogenase
299. Extrachromosomal DNA is present in (R.P.M.T. 2000)
(A) Nucleus (B) Glyoxysome (C) Ribosome (D) Chloroplast
300. Which codon is related to UAG and UAA in functioning (Manipal 2001)
(A) GUG (B) UGA (C) UUU (D) AUG
301. Which one codes for an amino acid (Manipal 2001)
(A) Cistron (B) Exon (C) Intron (D) Codon
302. A molecule with clover leaf like structure is (C.P.M.T. 2001)
(A) mRNA (B) rRNA (C) tRNA (D) ZDNA.
303. DNA strands have (D.P.M.T. 2001)
(A) Quaternary structure (B) Same polarity
(C) Antiparallel polarity (D) Disulphide bond
304. RNA polymerase I catalyses synthesis of (Kerala 2001)
(A) rRNA (B) tRNA (C) mRNA (D) RNA elongation
(E) RNA initiation
305. Nucleoside is (C.E.T. Chd. 2001)
(A) Nitrogen base + Phosphate (B) Phosphate + Sugar
(C) Nitrogen base + Sugar (D) Nitrogen base + Sugar + Phosphate.
306. Which one cannot be synthesised from DNA directly (C.E.T. Chd. 2001)
(A) wRNA (B) fRNA (C) rRNA (D) Protein.
307. Okazaki fragments are (Kerala 2001)
(A) RNA primers (B) Short DNA fragments on leading strand
(C) Short DNA fragments on lagging strand (D) DNA fragments from dimerisation
(E) DNA fragments from radiation action.
308. Heat killed pathogenic NL cells and live nonpathogenic cells are mixed and injected into mice.
The result would be (Kerala 2001)
 GENETICS 60

(A) Mice develop disease and die (B) Mice die without developing disease
(C) Mice remain healthy (D) 50% mice develop disease and die
(E) All mice remain healthy but lose vision.
309. Given below are assertion and reason. Point out if both are true with reason being correct
explanation (A), both true but reason is not correct explanation (B), assertion true but
reason is wrong (C) and both are wrong (D). Assertion. Watson and Crick provided experi-
ment proof of semiconservative nature of DNA replication. Reason. RNA polymerase adds nucle-
otides in replication (A.U.M.S. 2001)
(A) (B) (C) (D)
310. Eucaryotes differ from procaryotes in DNA replication (B.H.U. 2001)
(A) Different enzymes for leading and lagging strands
(B) Use of DNA primer instead of RNA primer
(C) Discontinuous rather than semidiscontinuous replication
(D) Unidirectional rather than bidirectional replication.
311. A fragment formed during DNA synthesis is (H.P.P.M.T. 2001)
(A) Polymerase fragment (B) RNA fragment
(C) Okazaki fragment (D) Epimerase activity
312. Flow of information during translation is (H.P.P.M.T. 2001)
(A) mRNA — Protein (B) DNA — mRNA
(C) mRNA — DNA (D) DNA — protein
313. mRNA is synthesised over DNA template in direction (C.B.S.E. 2001)
(A) 5' — y (B) 3' — y
(C) Both A and B (D) Depends upon DNA strand.
314. Extranuclear DNA occurs in (C.B.S.E. 2001)
(A) Chloroplast and lysosome (B) Mitochondria and ribosome
(C) Chloroplast and mitochondrion (D) Peroxisome and ribosome.
315. Types of RNA polymerases operative in eukaryotes are (C.B.S.E. 2001)
(A) Four (B) Three (C) Two (D) One.
316. Gene and cistron are sometimes used as synonyms because (C.B.S.E. 2001)
(A) One gene contains one cistron (B) One gene contains many cistrons
(C) One gene contains no cistron (D) One cistron contains many genes.
317. Echerichia coli is allowed to replicate once in medium having radioactive thymidine. Which one
is correct (C.B.S.E. 2001)
(A) Both strands of DNA become radioactive (B) One strand becomes radioactive
(C) Each strand is half radioactive (D) None is radioactive
318. Evolution was termed RNA world due to discovery of (C.B.S.E. 2001)
(A) Absence of RNAs in some cells (B) GenomicRNA
(C) RNA enzymes (D) Synthesis of proteins by mRNA, fRNA, and rRNA
319. In place of thymine found in DNA, RNA contains the base (M.P.P.M.T. 2001)
(A) Cytosine (B) Adenine (C) Uracil (D) Guanine
320. Which one is an actual mutation; change in (D.P.M.T. 2001)
(A) Exon (B) Intron (C) Gene structure (D) Noncleotide sequence.
321. RNA polymerase moves to structural genes from the promoter when (Kerala 2001)
(A) There is no repressor on operater (B) There is repressor on operator
 GENETICS 61

(C) Inducer attaches to structural genes (D) Regulatory gene induces promotor
(E) It first shifts to regulator gene.
322. Which is correctly matched (B.H. U. 2001)
(A) Ligase - Breaking DNA strand (B) Flame cells - Roundworms
(C) Rous Sarcoma - Reverse transcriptase (D) Thyroxine - Adrenal
323. Which one is not produced in Escherichia coli present in lactose medium (Karnataka 2001)
(A) -galactosidase (B) Lactose permease
(C) Thiogalactoside transacetylase (D) Lactose dehydrogenase.
324. Which is not component of lac operon (Karnataka 2001)
(A) Primer gene (B) Promoter gene (C) Structural gene (D) Regulator gene.
325. In lac operon, lactose acts as (H.P.P.M.T. 2001)
(A) Inducer (B) Co-inducer (C) Repressor (D) Co-repressor.
326. In repressible or negative operon (C.B.S.E. 2001)
(A) Corepressor binds with inducer (B) Corepressor binds with aporepressor
(C) Corepressor does not bind with repressor (D) cAMP has negative effect.
327. Translation is formation of (M.P.P.M.T. 2001)
(A) Protein from RNA (B) DNA over DNA (C) RNA over DNA (D) DNA over RNA.
328. Replacement of a purine with another purine or a pyrimidine with another pyrimidine is
(Tamil Nadu 2001)
(A) Transition (B) Transversion (C) Insertion (D) Deletion.
329. A point mutation comprising substitution of purine with pyrimidine is (A.I.I.M.S 2002)
(A) Transition (B) Transversion (C) Deletion (D) Translocation.
330. Frame shift mutation occurs when (A.I.I.M.S. 2002)
(A) Base is deleted or added (B) Base is added
(C) Base is deleted (D) Anticodons are not present.
331. Change in sequence of nucleotides of DNA is (C.B.S.E. 2002)
(A) Mutagen (B) Recombination (C) Mutation (D) Translation.
332. Replacement of a purine base with another purine base is (J.I.P.M.E.R. 2002)
(A) Somatic mutation (B) Addition mutation (C) Deletion mutation (D) Substitution mutation.
333. Alkaptonuria is caused by a (J.I.P.M.E.R. 2002)
(A) X-linked recessive gene (B) X-linked dominant gene
(C) Recessive autosomal gene (D) Dominant autosomal gene.
334. Which of the following causes point mutation (D.P.M.T. 2002)
(A) Deletion (B) Inversion (C) Transition (D) All the above.
335. fRNA has two unequal free arms (MM. 2001)
(A) Short arm ending in — G and long arm in -CCA
(B) Short arm ending in —A and long arm in -ACC
(C) Short arm ending in — G and long arm in -CGA
(D) Short arm ending in C and long arm in -GCA.
336. Okazaki fragment are joined by enzyme (M.H. 2001, Wardha 2002)
(A) DNA helix (B) DNA ligase (C) DNA polymerase II (D) RNA polymerase II.
337. In hair pin model of RNA which nitrogen base occurs at the short end (M.H. 2002)
(A) Adenine (B) Guanine (C) Cytosine (D) Thymine.
 GENETICS 62

338. Central dogma of protein synthesis consists of (M.H. 2002)

(A) DNA tranlation
  mRNA tranlation
  Protein
(B) DNA transcript
  ion
 wRNA tranlation
  Protein
(C) RNA replicatio
 n  DNA transcript
  ion
 Protein
(D) RNA transcript
  ion
 mRNA translatio
 n  Protein
339. Deletion or insertion of base pairs produces frame shift mutation unless the number of deleted or
inserted base pairs is (C.E.T. Chd2002)
(A) Ten (B) One (C) Two (D) Three
340. Repressor binds to operator of lac operon (Manipal 2002)
(A) Lactose is unable to remove the repressor
(B) RNA polymerase is activated
(C) Galactosidase does not act on lactose
(D) Structural genes X, Y and Z fail to transcribe
341. Barbara Me Clintock is famous for her work on (Har. P.M.T. 2002)
(A) Rice (B) Wheat (C) Maize (D) Sugarcane.
342. Jacob and Monod proposed operon concept on the basis of their study of lactose metabo-
lism in Escherichia coll. The concept is applicable to (C.B.S.E. 2002)
(A) All prokaryotes only (B) All prokaryotes and some eukaryotes
(C) All prokaryotes and all eukaryotes (D) All prokaryotes and some protozoans.
343. First transformation experiment on bacteria was performed on (C.B.S.E. 2002)
(A) Escherichia coli (B) Salmonella typhimurium
(C) Pasteurella pestis (D) Diplococcus pneumoniae.
344. Sequence of genes in lac operon of Echerichia coli is (Orissa 2002)
(A) Promotor gene—operator gene — structural gene
(B) Structural gene —promotor gene — operator gene
(C) Structural gene — operator gene— Promotor gene
(D) Operator gene — promotor gene — structural gene
345. Enzyme catalysing peptide formation is located in (A.M.U. 2002)
(A) Smaller subunit of ribosome (B) Larger subunit of ribosome
(C) Central part of fRNA (D) None of the above.
346. Special unwinding enzyme that breaks hydrogen bonds between the two strands of DNAis
(Kerala 2002)
(A) Primase (B) Topoisomerase (C) DNA polymerase (D) Helicase
(E) DNA ligase
347. What happened when heat killed S-cells alongwith live R-cells were injected into mice
(Kerala 2002)
(A) Mice died and showed live S-cells (B) Mice survived and showed live S-cells
(C) Mice died and showed live R-cells (D) Mice died and showed dead R-cells
(E) Mice survived and showed live R-cells.
348. Diameter of DNA double helix is
(B.H.U. 1988, 1989, C.M.C. 2002, Kerala 2002, Orissa 2003, A.I.E.E.E. 2003)
(A) 34 A (B) 20 A (C) 3-4A (D) 340A.
 GENETICS 63

349. The smallest RNA is (M.P.P.M. T. 2002)

(A) mRNA (B) fRNA (C) rRNA (D) None of the above
350. Wobble hypothesis was proposed by (A.F.M.C. 2002)
(A) Holley (B) Nirenberg (C) Khorana (D) Crick
351. Given below are assertion and reason. Point out if both are true and reason being correct expla-
nation (A), both true but reason is not correct explanation (B), assertion true but reason is wrong
(C) and both are wrong (D). Assertion. mRNA attaches itself to ribosome via its 3' end Reason.
mRNA has F-capsular nucleotide and basis for lagging sequence (A.U.M.S. 2002)
(A) (B) (C) (D)
352. Assertion. Hn mRNA is larger than mRNA.
Reason. HnRNA has nontranslating introns and more exons than required for translation.
(A.U.M.S. 2002)
(A) (B) (C) (D)
353. Which is important for transcription (A.I.I.M.S. 2002)
(A) CAAT Box (B) Promoter (C) DNA polymerase (D) DNA methylase.
354. Chargaff s rules are applicable to (Karnataka 2002)
(A) Single stranded RNA (B) Single stranded DNA and RNA
(C) Single stranded DNA (D) Double stranded DNA.
355. DNA segment, 3' TAC ATG GGT CCG 5', transcribes one mRNA. Four fRNAs with anticodons (a)
AUG (b) UAC (c) CCG and (d) GGU are required for translation. What is the order of fRNAs.
(Kamataka 2002)
(A) abdc (B) bade (C) abed (D) bacd.
356. Who was awarded Nobel Prize for in vitro synthesis of polyribonucleotides (R.P.M.T. 2002)
(A) Kornberg (B) Tatum (C) Ochoa (D) Khorana.
357. The most abundant RNA of cell is (Orissa 2002)
(A) mRNA (B) fRNA (C) rRNA (D) Catalytic RNA.
358. What is correct (Orissa 2002)
(A) mRNA is polycistronic in eukaryotes and monocistronic in prokaryotes
(B) mRNA is polycistronic in both eukaryotes and prokaryotes
(C) mRNA is monocistronic in both eukaryotes and prokaryotes
(D) mRNA is polycistronic in prokaroytes and monocistronic in eukaryotes.
359. Genetic code is (Orissa 2002)
(A) Triplet, universal, ambiguous and degenerate
(B) Triplet, universal, nonambiguous and nondegenerate
(C) Triplet, universal, nonambiguous and degenerate
(D) Triplet, universal, ambiguous and non-degenerate.
360. fRNA attaches to mRNA and amino acid respectively at (Orissa 2002)
(A) Anticodon loop and — CCA end (B) — CCA end and anticodon loop
(C) Anticodon loop and DHU loop (D) DHU loop and -CCA end.
361. Out of 64 codons, 61 code for 20 types of amino acids. It is due to (C.B.S.E. 2002)
(A) Overlapping genes (B) Degeneracy of genetic code
(C) Wabbling of codons (D) Universality of codons.
362. Exon part of mRNA has code for (C.B.S.E. 2002)
(A) Polypeptide (B) Carbohydrate (C) Lipid (D) Phospholipid.
 GENETICS 64

363. Exon segments are reunited after splicing by (C.B.S.E. 2002)

(A) RNA primase (B) RNA protease (C) RNA polymerase (D) RNA ligase.
364. DNA and RNA are different molecules
(A) DNA has uracil while RNA has thymine
(B) DNA has thymine and RNA has uracil
(C) DNA is micromolecule while RNA is macromolecule
(D) DNA has cytosine while RNA has guanine. (J.KC.M.E.E. 2002)
365. Sequence of three bases of DNA constitutes (A) Genome (B) Gene pool
(C) Genetic code (D) Genetic drift.
(J.K.C.M.E.E. 2002)
366. Teminism is
(A) Reverse transcription
(B) RNA replication
(C) DNA replication
(D) None of the above. (D.P.M. T. 2002)
367. Meselson and Stahl have provided
(A) Experimental proof of semiconservative replication of DNA
(B) Structure of chlorophyll
(C) Structure of RNA
(D) Both B and C. (D.P.M.T. 2002)
368. Codes for mRNAs and proteins are (A) Zigzag (B) Coplanar
(C) Colinear (D) None of the above.
(D.P.M.T. 2002)
369. Smallest part of DNA that can undergo recombination is
(A) Muton (B) Cistron
(C) Replicon (D) Recon.
(D.P.M.T. 2002)
370. DNA molecule has small units called
(A) Purines
(B) Adenine and thymine
(C) Cistron, Muton and Recon
(D) Adenine. (B.H.U. 2002)
371. In eukaryotes transcription occurs in (A) Cytoplasm (B) Nucleus (C) Cytosol (D) Matrix.
(B.H.U. 2002)
372. DNA can be formed over RNA through
(A) Ligase
(B) Gyrase
(C) Helicase
(D) Reverse transcriptase. (Wardha 2002)
373. Which one is correctly matched with its specificity for an amino acid, start or stop in protein
synthesis
(A) UCG - start (B) UUU - stop (C) UGU-Leucine(D) UAC-Tyrosine.
(C.B.S.E. 2003)
374. A gene encoding for polypeptide of 50 amino acids get mutated at 25 codon UAU becoming UAA.
 GENETICS 65

The result would be

(A) Polypeptide of 24 amino acid
(B) Two polypeptides one with 24 amino acids and second with 25 amino acids
(C) A polypeptide with 49 amino acids
(D) A polypeptide of 25 amino acids.
(C.B.S.E. 2003)
375. During transcription, RNA polymerase binds to DNA site
(A) Regulator (B) Promoter (C) Enhancer (D) Receptor.
(C.B.S.E. 2003)
376. Degeneration of genetic code is due to
(A) First member of codons
(B) Second membr of codons
(C) Third member of codons
(D) Entire codons. (C.B.S.E. 2003)
377. What does lac refer to in lac operon (A) Lactase (B) 1,00,000 (C) Lac insect (D) Lactose.
(C.B.S.E. 2003)
378. During translation initiation in prokaryotes, GTP is required for
(A) Formation of formyl—met—tRNA
(B) Binding of 30 S subunit of ribosome with mRNA
(C) Association of 30S-mRNA with formyl - met -1RNA
(D) Association of 50 S subunit of ribosome with initiation complex. (C.B.S.E. 2003)
379. In genetic code dictionary, codons used to code for all the 20 essential amino acids are (A) 20
(B) 60
(C) 61 (D) 64.
(C.B.S.E. 2003)
380. A single amino acid is often coded by more than one triplet codon. In most of these cases the first
two bases are the same but the third base is different. The feature of genetic code is
(A) Universality
(B) Nonoverlapping and commaless
(C) Redundancy and degeneracy
(D) Nonambiguity. (Kamataka 2003)
381. Match the components of /ac-operon of Escherichia coli and find out the correct combination.
382.* Which of the following is the Pribnow box ? (A) 5TATAAT3' (B) 5TAATTA3' (C) 5’AATAAT3' (D)
5’ATATTA3'.
(Karnataka 2003)
383. Cancer causing gene is
(A) Proto-oncogene (B) Oncogene (C) Transposon (D) Mutable gene.
(C.E.T. Chd. 2003)
384. What is true of tRNA ?
(A) It binds with an amino acid at its 3' end
(B) It has five double stranded regions
(C) It has a codon at one end which recognises anticodon of mRNA
(D) It looks like clover leaf in 3-dimensional structure. (A.U.M.S. 2003)
385. Which one represents the correct manner of DNA replication ?
 GENETICS 66

(A.U.M.S. 2003)
386. Which one of the following codons codes for the same information as UGC
(A) UGU (B) UGA
(C) UAG (D) UGG.
(A.LI.M.S. 2003)
387. Experiment that proved DNA to be genetic material of bacteriophage was performed by
(A) Beadle and Tatum
(B) Hershey and Chase
(C) Schleiden and Schwann
(D) Weismann. (J.K.C.M.E.E. 2003)
388. Anticodon is base triplet found on (A) mRNA complementary to rRNA
(B) wRNA complementary to tRNA
(C) fRNA complementary to wiRNA
(D) tRNA complementary to rRNA.
(J.K.C.M.E.E. 2003)
389. Activation of amino acid during protein synthesis requires
(A) mRNA (B) rRNA
(C) rRNA (D) wRNA.
(J.K.C.M.E.E. 2003)
390. What is correct
(A) Both mitochondria and chloroplasts contain circular DNA
(B) Chloroplasts possess circular DNA which is absent in mitochondria
(C) Mitochondria contain circular DNA but the same is absent in chloroplasts
(D) Neither mitochondria nor chloroplasts contain circular DNA.
Q.K.C.M.E.E 2003)
391. Number of punctuation codons is (A) 3 (B) 2
(C)l (D)5. (A.M.U. 2003)
392. DNA polymerase takes part in (A) Transcription (B) Splicing (C) Replication (D) Teminism.
(A.M.U. 2003)
393. Genetic code is degenerate because
(A) Codons have same energy level
(B) Each codon has a different mean ng
(C) Each codon has many meanings
(D) Many codons have same me?;iing. {A.M.U. 2003, Manipal2003, Pb. P U.T. 2003)
394. Nitrogen bases present in a codon are (A) 4 (B) 3
(C) 2 (D) 1.
(C.M.C. 2003, C.P.M.T. 2003)
395. Who discovered genetic code (A) Nirenberg (B) Khorana (C) Ochoa (D) Crick.
(Wardha 2003)
396. Starting rRNA of procaryotes is loaded with
(A) Methionine
(B) Formylated methionine
(C) Valine
 GENETICS 67

(D) Tryptophan. (Wardha 2003)

397. Who discovered jumping gene in Maize
(A) Khorana
(B) Morgan
(C) Me Clintock
(D) Beadle and Tatum. (C.P.M.T. 2003)
398. Enzyme required for DNA synthesis is
(A) DNA ligase
(B) DNA synthetase
(C) RNA polymerase
(D) DNA polymerase. (C.P.M. T. 2003)
399. Information from DNA is conveyed by (A) 7-RNA (B) mRNA
(C) tRNA (D) sn RNA.
(C.P.M.T. 2003)
400. Protein synthesis occurs over
(A) Plasma membrane
(B) Lysosome
(C) Golgi body
(D) Ribosome. {C.P.M.T. 2003)
401. Genes are organised over
(A) Chromosome (B) Chromonema (C) Lysosome (D) Golgi body.
{C.P.M.T. 2003)
402. Compare and find out the correct matching
(D) a - ii, b - iv, c - Hi, d - i (Manipal 2003)
403. From their experiments on Neurospora crassa, Beadle and Tatum proposed
(A) One gene one polypeptide hypothesis
(B) One gene one enzyme hypothesis
(C) One gene one function hypothesis
(D) Many genes one enzyme hypothesis.
(D.P.M.T. 2003)
404. Watson and Crick shared the Nobel Prize for DNA structure with
(A) Franklin (B) Pauling
(C) Wilkins (D) Tatum.
{D.P.M.T. 2003)
405. DNA was proved to be genetic material through experiment of
(A) Transduction
(B) Replica experiment
(C) Viral infection of Tobacco
(D) Transformation. (Har. P.M. T. 2003)
406. DNA and RNA differ by
(A) Nitrogen bases and sugars
(B) Nitrogen bases and phosphate groups
(C) Number of C-atoms in sugars
 GENETICS 68

(D) Sugar and phosphate groups.

(B.H.U.20G3) 407. Triplet UUU codes for
(A) Leucine (B) Methionine
(C) Phenylalanine (D) Glycine.
(Orissa2003)
408. Bacteriophage with radioactivity both in DNA and protein infects a bacterium. Bacterium be-
comes radioactive.
Radioactivity occurs in (A) Protein (B) DNA
(C) All parts (D) Both A and B.
(Orissa 2003 409. Plant cell can be transformed through
(A) Electrolysis (B) Electroporation (C) Electrophoresis (D) Electroduction
(Orissa 2003)
410. Recipients of Nobel prize for discovering DNA double helix are
(A) Watson and Crick
(B) Khorana and Nirenberg
(C) Kornberg and Ochoa
(D) Beadle and Tatum. (Orissa 2003) 411. The gene not expressing for synthesis of any
polypeptide is
(A) Epistatic gene
(B) Hypostatic gene
(C) Pseudogene
(D) None of the above. (Orissa 2003) 412*. Break through of the year 2002 is
(A) wRNA (B) cDNA
(C) miRNA (D) rDNA
(Kerala 2003)
413. In eucaryotes, RNA polymerase III catalyses the synthesis of (A) 18 S rRNA (B) /RNA (C) wRNA
(D) 5 S rRNA.
(Kerala 2003)
414. Who wrote “It has not escaped our notice that the specific pairing we have postulated immediately
suggests a possible copying mechanism for the genetic material.”
(A) Meselson and Stahl
(B) Beadle and Tatum
(C) Watson and Crick
(D) Nirenberg and Ochoa. (Kerala 2003) 415. Regulatory genes occur
(A) In front of structural genes
(B) Alongwith structural genes
(C) In the middle of structural genes
(D) At the end of structural genes.
0 {Kerala 2003) 416. Who discovered DNA polymerase
(A) Okazaki
(B) Kornberg
> (C) Meselson and Stahl
1
(D) Watson and Crick. (Kerala 2003) 417. Which is not applicable to /RNA
(A) Smallest of RNAs
 GENETICS 69

(B) Largest of RNAs

(C) It bears NODOC
(D) It has clover-leaf structure.
(Kerala 2003) 418. Which one is joining or repair enzyme
(A) DNA kinase 3) (B) DNA ligase
ig (C) DNA polymerase
(D) Transcriptase. (A.I.E.E.E. 2003)
419. Human gene expresses in genetically engineered bacteria because (A) Genetic code is
universal ) (B) Splicing reaction occur in bacteria
‘ (C) Gene regulation is similar
(D) Human chromosome can replicate in bacteria. (A.I.E.E.E. 2003)
420. cDNA is formed by
(A) DNA dependent DNA polymerase
(B) RNA dependent DNA polymerase
(C) DNA dependent RNA polymerase
(D) DNA ligase. (D.P.M. T. 2003) All. In gene mutation, adenine is replaced by
guanine. It is
(A) Frame-shift mutation
(B) Transcription
(C) Transition
(D) Transversion. (C.B.S.E. 2004) 422. The ratio constant for a species is
(A) A + G/C + T
(B) T + C/G + A
(C) A + C/T + G
(D) G + C/A + T. (C.B.S.E. 2004) 123. In bacterial DNA replication, synthesis
starting from the site of origin of replication
(A) Involves RNA primers
(B) Requires telomerase
(C) Proceeds unidirectionally
(D) Moves bidirectionally. (C.B.S.E. 20
424. Telomere of eucaryotic chromoso possesses short segments of
(A) Guanine rich repeats
(B) Thymine rich repeats
(C) Cytosine rich repeats
(D) Adenine rich repeats. (C.B.S.E. 20(
425. A ribotide is made of
(A) Adenine + Deoxyribose + Phosphal
(B) Uracil + Ribose + Phosphate
(C) Thymine + Ribose + Phosphate
(D) Uracil + Deoxyribose + Phosphate.
(Kerala 200
426. Length of DNA with 23 base pairs is (A) 78-4 A (B) 78-2 A (C)78A (D)74-8A
(Kerala 200
427. DNA strands are antiparallel because of
 GENETICS 70

(A) Peptide bonds

(B) Disulphide bonds
(C) H-bonds
(D) Phosphodiester bonds. (Kerala 200<
428. Khorana was awarded Nobel prize for
(A) Discovering DNA
(B) Discovering RNA
(C) Chemical synthesis of gene
(D) Discovering DNA polymerase.
(Kerala 2004 429. Which one is correct matching
(A) Anticodon—Site of fRNA havinj complementary bases to a codon o
mRNA
(B) Transcription—Synthesis of protein
(C) Ribosomal RNA—Carries amino acid to site of protein synthesis
(D) Translation-Process of /TJRNA carrying information from nucleus to ribosome. (Kerala
2004)
430. Operon is
(A) Sequence of three nitrogen bases determining a single amino acid
(B) A set of closely placed genes regulating a metabolic pathway in procaryotes
(C) Segment of DNA specifying a polypeptide
(D) Gene responsible for switching on and switching off of other genes.
(Kerala 2004)
131. Match the columns and find the correct combination
(uj a—u,D—iv,c—i,d—Hi (Kerala 2004) 432. A coding sequence made of alternating C and U bases
would form a polypeptide having
, (A) Alternating leu and ser residues
(B) Either leu or ser residues
(C) Only ser residues
(D) Only leu residues. (Kerala 2004)
433. The function of promoter of tac-operon is to
(A) Bind to gyrase
(B) Bind to RNA polymerase
(C) Code for RNA polymerase
(D) Process mRNA. (A.I.E.E.E. 2004)
434. Oncogenes were discovered by
(A) Fleming
(B) Rowland
(C) Pruessiner
(D) Bishop and Vermus. (A.I.E.E.E. 2004)
435. Find the correct match
(A) UUA-Valine (B) AUG-Cysteine (C) AAA - Lysine (D) CCC - Alanine.
(A.I.I.M.S. 2004)
436. A gene of operon which forms the repressor protein is
(A) Operator (B) Promoter
 GENETICS 71

(C) Regulator (D) Structural.

(Kamataka 2004)
437. Which one is not a termination codon (A) UAA (B) UAG
(C) AUG (D) UGA.
(J.KC.M.E.E. 2004)
438. Clover leaf secondary structure of fRNA has a loop for
(A) Three nucleotides of a codon
(B) Three nucleotides of an anticodon
(C) No nucleotides
(D) Both A and B (J.KC.M.E.E. 2004)
439. DNA repair is carried out by
(A) DNA ligase
(B) DNA polymerase III
(C) DNA polymerase II
(D) DNA polymerase I. (A.F.M.C. 2004)
440. Enzyme used in joining DNA fragments is (A) DNA ligase (B) DNA polymerase (C) DNA gyrase
(D) Topoisomerase.
(Orissa2004)
441. A nutritionally wild type organism which does not require additional biochemicals is (A) Prototroph
(B) Auxotroph (C) Phenotype (D) Autotroph.
(C.B.S.E. 2004)