3.

Inheritance and Variation

Chromosomes and Mechanism of Inheritance: The transmission of genetic character from

one generation to other generation is called Heredity or Inheritance. Before Investigation of
chromosome, the mechanism of inheritance was successfully investigated.
Gregor Mendel was son of the peasant (small land farmer) farmer, born in Moravia in
1822. He gave first time the accurate mechanism of inheritance by hybridization technique.
For his study, he used pea plant which have 07 contrasting characters (see the table) Table.

Pea plants were studied individually one at a time or in combination of two or three
character at a time. Mendel processed all data methematically & statistically. Mendel also
postulated the fundmaental laws of heredity, which were proposed by Correns (1900). He
visualised that traits (characters) are inherited by ‘something’ present inside the gametes. For
this ‘something’ he coined the term ‘factor’ which are responsible for expression of particular
trait. Those Mendalian factors are now called as ‘Genes’. These factors are present in the
form of pair in parent cell & segregate during gamete formation, without mixing.

Reason’s for Mendel’s success:

• His experiments were carefully planned & involved large sample.

• He carefully recorded large number of plants of each type & expressed his results as ratio.
• In pea plants, contrasting characters can be easily recognized.
• The seven characters in pea plants were controlled by single factor each. The genes/factors
are located on separate chromosomes. These factors are transmitted from generation to
generation. • He introduced the concept of dominant & recessiveness.

Genetic terminology:

• Character: It is a specific feature of an organism. .e.g. height of stem.

• Trait:- An inherited character & its detectable variant is called trait. e.g. Tall or dwarf.
• Factor: It is a unit of heredity, responsible for inheritance & expression of character. It
determines the genetic characters of an organism.
• Gene:- These are the segment of DNA which are responsible for inheritance of characters.

K.S. Notes 40 Inheritance and Variation

• Alleles / Allelomorphs: Two or more alternative forms of a gene is called alleles. Allele is
a short form of allelomorph.

• Dominant: These are the alleles which express its character in F1 generation.
(heterozygous condition).
• Recessive:- These alleles which is not expressed in F1 generation (heterozygous condition).
It expresses only in the presence of another identical allele.
• Phenotype: The external appearance of an individual for any trait is called phenotype.
• Genotype: Genetic constitution or genetic make up for an organism for a particular trait is
called genotype.

• Homozygous (pure): An individual possessing identical alleles for a particular trait, is

called homozygous or pure for that trait.
Heterozygous: An individual possessing contrasting alleles for a particular trait called
heterozygous. It produces different types of gametes. Heterozygous individual is also called
hybrid.
• Pure Line: An individual or group of individuals (population) which is homozygous called
pure line.
• Monohybrid: A cross between two pure parents differ in a single pair of contrasting
character is called monohybrid.
• F1 generation: It is the first filial generation from a mating between pure parents having
contrasting characters.
• F2 generation: It is the second filial generation produced by selfing of F1 generation.

• Punnett square / checker board: It is a diagrammatic representation of a particular cross

to predict the progeny.
• Homologous chromosomes: The morphologically, genetically & structurally identical
chromosomes present in diploid cell, are called homologous chromosome.

• Back cross: It is a cross between F1 hybrid with any of the parent.

• Test cross: It is a cross between F1 hybrid with homozygous recessive parent. It is used to
test the homozygous / heterozygous nature. It is a type of back cross.

• Phenotypic ratio: It is the ratio of offsprings produced, with respect to their physical
appearance.
• Genotypic ratio: It is the ratio of offsprings produced, with respect to their genetic
make up.

• Monohybrid cross: A cross between two parents differing in only one pair of contrasting
character is called monohybrid cross. e.g. cross of pure tall & pure dwarf plants.

Dihybrid cross: A cross between two parents differing in two pairs of contrasting character
is called dihybrid cross. e.g. cross of pure yellow, round seeded plant with green, wrinkled
seeded plant.

K.S. Notes
41 Inheritance and Variation
 Chart: Dihybrid cross
Chart: Monohybrid cross

Mendel’s laws of inheritance: Mendel formulated three laws of inheritance as follow :

1) Law of dominance:
Statement: When two homozygous individuals with one or more sets of contrasting
characters are crossed, the characters which appear in F1 generation are dominant & those
which do not appear in F1 generation are recessive.

2) Law of segregation / Law of purity of gametes: When hybrid (F1) forms gametes, the
alleles segregate from each other & enter in different gametes.

The gametes formed are pure because they carry only one allele each (either dominant
or receive allele). Hence, this law is alo called law of purity of gametees.

3) Law of independent assortment:

Statement: This law is based on dihybrid cross when hybrid possessing two or more pair of
contrasting factors forms gametes, the factors in each pair combine independently of the other
pair.

Back Cross: Generally F1 individuals obtained in a cross are usually selfed to get F2
generation. They can be crossed with one of the two parents from which they were derived
(either dominant or recessive), such cross is called Back cross.

Test cross: Cross between F1 hybrid

with homozygous recessive parent is
known as test cross. It is used to test
either an individual is homozygous
(pure) or heterozygous (hybrid). It is
easy, simple & repeatable process &
so generally used in rapid crop
improvement programme.

Test cross is used to find out

the genotype of any plant with
Fig. Graphical representation of test cross
dominant expression, but it is not
clear that whether it was pure or hybrid. e.g. A pea plant having violet flowers is crossed with
a pea plant with white flower. If all flowers produced are violet, we conclude that plant is
pure but if we get violet & white flowers in 1:1 ratio, we can conclude that plant is hybrid.

K.S. Notes 42 Inheritance and Variation

Deviations from Mendel’s findings: On the basis of Mendel’s experiments, it is concluded
that : i) Single trait   single gene   Two alleles.
ii) Two alleles show interaction in which one is completely dominant.
iii) Genes for different traits present on different chromosomes assort independently.
By passing of time, many deviations were identified in post-Mendelian era, which gave
additional information. These deviations are also called Neo-Mendalism. It was observed that
phenotypic expression can be modified or influenced by other gene. These gene interactions
are of two types :

i) Intragenic inheritance: These interactions occur between the alleles of same gene. e.g.
incomplete dominance, codominance & multiple alleles.

ii) Intergenic (non allelic) interactions: These interactions occur between the alleles of
different gene present on the same or different chromosomes e.g. Pleiotropy, polygenes,
epistasis, supplementary & complementary genes.
a) Incomplete dominance:
Result: Genetypic ratio
1 : 2:1
RR Rr rr

Phenotypic ratio
1: 2 : 1
Read pink white

In this deviation, both the genes of an allelomorphic pair express themselves partially.
One gene can not suppress the expression of the other gene completely. So, in such cases
there i s an i ntermedi ate ex pressi on i n F 1 hybrid. e.g. Mirabilis jalapa. In this plant, if a red
flowered (RR) plant is crossed with a white flowered (rr) plant, the F1 hybrid have pink (Rr)
flowers.
b) Co-dominance: In co-dominance both the genes of an
allelomorphic pair express themselves equally, called
co-dominance. Thus in co dominance both alleles are
expressed e.g. Coat colour in cattle. When red cattles
(RR) are crossed with white cattles (WW), the F1 hybrid
(RW) are Roan. Roan has a mixture of red & white
colour hair. Thus both the traits are expressed equally.
In F2 generation Red (RR), Roan (RW) & White (WW)
are produced in the ratio1:2:1 In this way,in co-dominance,
the genotypic & phenotypic ratios are same.

c) Multiple alleles: More than two alternative forms of Fig. Representation of co-dominance
in cattle
a gene occupying the same locus on a chromosomes are
called as multiple alleles. It occurs by mutation in a gene. A gene can mutate several times
producing a series of alternative expressions. e.g. (1) wings of Drosophila.

In Drosophila, wings range in varieties from normal wings to absence of wings. The
character of wing is due to a series of multiple alleles. The normal wing is due to wild type of

K.S. Notes 43 Inheritance and Variation

 allele i.e. Vg+ . When allele Vg is present in homozygous
condition, there is no wings in Drosophila. Like wise, Vgni
causes nicked wings, Vgno causes notched ings & Vgst
causes strap wings. e.g. (2) Another example of multiple
allele is A, B, O blood grouping in human beings.

d) Pleiotropy:
When a single gene controls two or more different
traits called pleiotropy or pleiotropism & such genes are
called pleiotropic process. Due to this deviation, the Table: Few phenotypes and
phenotypic ratio is 1 : 2 instead of 3 : 1 because of death of genotypes in Drosophila
recessive homozygotes. e.g. sickle cell anaemia.

Fig. Representation of Pleiotropy

This disease is caused by gene Hbs which is recessive & normal or healthy gene is
HbA which is dominant. Carrier is heterozygous i.e. HbA Hbs . Show mild anaemia. Sickle
cell anaemic patient show RBC sickle shaped or half moon shaped only under abnormally
low O2 concentration. The homozygous recessive gene Hbs die, thus the gene for sickle cell
anaemia is lethal in homozygous condition.

A marriage between two carriers will produce normal, carriers & sickle cell anaemic
children in 1:2:1 ratio. But sickle cell anaemics die so ratio become 1:2. Carrier can be
identified by microscopic examination of blood.

Chromosomal theory of inheritance: Mendel published his work on inheritance of

characters in 1866. but due to some reasons it was not noticed. His work was not widely
recognized. As continuous variations were observed in nature. Mendel’s concept of genes as
unit of heredity which control the expression of characters was not accepted by other
scientist. He also did not know the physical location of genes. But in 1900, three scientist
Hugo de Vries, Correns & Von Tschermak, independently redis covered Mendel’s work. Due
to advancement in microscopy, scientists were able to observe cell division & structure of
chromosomes under microscope.

Based on these observations, chormosomal theory of inheritance was put forth by

sutton & Bovery. This theory identifies chromosomes as the carriers of genetic material.

This theory states that ......

• Chromosomes are present in pairs in somatic cells.
• During gamete formation meiosis takes place & chromosomes segregate & assort
independently. • Each gamete contains only one chromosome from a pair.
• Nucleus of the gametes contain chromosomes which carry all hereditary characters.

K.S. Notes 44 Inheritance and Variation

• Gametes are link between parents & offsprings. • Fusion of haploid male & female,
restores the diploid number of chromosomes.

Chromosomes: These are filamentous bodies present in eukaryotic nucleus. Term

chromosomes was coined by W. Waldeyer. The size of chromosome varies from species to
species. In metaphase size of the chromosome varies from 0.1 to 33 μm in length & 0.2 to
2 μm in thickness. Chromosomes are divisible during cell division. They have self
replicating ability & play a vital role in heredity, variation, mutations & evolution.
Chemically eukaryotic chromosomes are made up of DNA, histone & non histone proteins.
Function of chromosome: Chromosomes are carrier of heredity.

Number of chromosomes:
The number of
chromosome is specific &
constant for a particular
species, so it play important
role in phylogenetic &
taxonomic studies.
Primary basic number of
chromosome (i.e. ‘x’) in a
cell is called Ploidy. Ploidy
may be euploidy &
Chart: Variation in chromosome number (Ploidy)
aneuploidy.
Euploidy: When the chromosome number is the exact multiple of the primary basic number,
then it is called euploidy. It includes monoploid/haploid (with one set of chromosome x = n),
diploids (2n = 2 set of chromosomes), triploid (3n = 3), tetraploids (4n = 4) & so on.

Aneuploidy: When the chromosome number is not the exact multiple of the haploid set, it is
called aneuploidy. It is addition or deletion of one or more chromosome. e.g. monosomy
(2n-1) , Nullisomy (2n-2) , Trisomy (2n+1) , Tetrasomy (2n + 2).
Structure of chromosome: When the cell is at
metaphase stage, it can be clearly visible under
microscope because at this stage chromosomes are
highly condensed. Typical chromosome consist of two
chromatids joined together at centromere or primary
constriction. It contains disc shaped kinetochore. Spindle
fibre are attached with kinetochore during cell division.
Few chromosomes contain some additional one or two
constrictions called secondary constriction. At
secondary constriction-I nucleolus formed during
interphase. At secondary constriction II satellite body
(SAT body) is attached. Each chromatid contains long, Fig. Structure of Chromosome
unbranched, slender & highly coiled DNA thread called Chromonemata, throughout the
length. End of chromosome (i.e. chromatid) are known as telomeres.

K.S. Notes 45 Inheritance and Variation

 Depending upon the position of centromere there are 4 types of chromosomes, i.e.
Acrocentric (J-shaped), Telocentric (I-shaped), sub metacentric (L-shaped) & metacentric
(V-shaped) .
Sex Chromosomes:Chromosomes which are used for determination
of sex called sex chromosomes (allosomes). Human & other
mammals have X & Y sex chromosomes.

X-chromosome is straight, rod like & longer than

Y-chromosome. X-chromosome is metacentric & Y-chromosome is
acrocentric. X-chromosome has large amount of euchromatin
(extended region) & small amoung of heterochromatin (highly
condensed region). Euchromatin has large amount of DNA, hence Fig. Structure of X and Y
chromosomes (in humans)
genetically active. While Y-chromosome has small amount of
euchromatin & large amount of hetero chromatin, hence genetically less active. Both the
chromosomes show homologous & non homologous part. Homologous regions show similar
gene while non homologous regions show dissimilar genes. Crossing over takes place between
homologous region. Non homologous region of X-chromosome is longer & contains more
genes than that of non homologous region of Y-chromosome. X-linked genes are present on
non homologous region of X-chromosome. While Y- linked genes are present on non
homologous region of Y-chromosomes.
Linkage: Chromosomes are carriers of heredity. Genes are present on chromosome which
have tendency to inherit, such genes are called as linked genes. Such phenomenon in which
genes are inherited together is called linkage. In plants,, linkage was discovered by Bateson &
Punnette & in animals, it was discovered by Morgan. Linkage is of two types i.e. complete &
incomplete.

I) Complete linkage: In complete linkage, the linked genes are present very close to each
other & do not separate & inherit together. Such genes are called complete linked genes &
phenomenon is called complete linkage. Thus, parental traits are inherited in offsprings. e.g.
X-chromosome of Drosophila males show complete linkage.
II) Incomplete linkage: In incomplete linkage, the linked genes are present far from each
other & have chances of separation by crossing over. such genes are called incomplete linked
genes & phenomenon is called incomplete linkage. Thus, new traits occur in offsprings. e.g. In
Zea mays - colour & shape of grain show incomplete linkage.
Linkage group: All the linked genes in a chromosome form a linkage group. In a particular
species, number of linkage group show its haploid number of chromosome. e.g. Drosophila
melanogaster has 4 linkage group which show 4 pairs of chromosome. Likewise, garden pea
has 7 linkage groups & show 7 pairs of chromosomes.
Sex linkage: The transmission of X and Y linked genes from parents to offspring is called sex
linkage inheritance. It is of three types i.e. X-linked, Y-linked & XY-linked. Sex linkage is of
two types.
a) Complete sex linkage: Genes located on nonhomologous part of X & Y chromosomes
show complete sex linkage. They inherit together because crossing over does not occur in this
region. e.g. Haemophilia , red green colour blindness, myopia (near sightedness) are for X-
linked character. For Y-linked hypertrichosis, Ichthyosis ( dry skin).
K.S. Notes
46 Inheritance and Variation
 b) Incomplete sex linkage: Genes located on homologous part of X and Y -chromosomes
are called incomplete. Sex linkage. They do not inherit together because crossing over takes
place in this region. e.g. Total colourblindness nephrits, retinitis - pigmentosa (back wall of
retina damage).

Crossing over: It is a process which produces new combinations of genes by exchanging the
corresponding segments between non sister chromatids of homologous chromosomes. It
occurs during pachytene of prophase-I of meiosis. Term crossing over is given by Morgan.
Crossing over is completed in 4 steps i.e. Synapsis, tetrad formation, crossing over &
terminalization. This process is responsible for variation in organisms.
Morgan’s experiments showing linkage & crossing over:
Morgan was American biologist, he used Drosophila melanogaster (fruit fly) for his
experiments. Because Drosophila can be cultured easily in laboratory, its life span is very
short (about two weeks) & it has high rate of reproduction. Morgan performed many dihybrid
cross experiments to study genes which are sex linked. The crosses were same to dihybrid
cross of Mendel in pea. e.g. Morgan crossed yellow bodied & white eyed female to wild type
with brown bodied & red eyed male. He observed that two genes did not segregate
i ndependentl y of each other & so F 2 ratio show deviation from 9:3:3:1 .

It is due to linkage of two genes. He also found that some genes are strongly linked &
show very few recombinations (1.3%) . When genes are loosely linked, they show more
recombinations (37.2%)

In this way, we conclude that genes for yellow body & white eye were strongly linked
& showed only 1.3% recombination in cross-I. In cross-II , white bodies & miniature wings
showed 37.2% recombination because there are loosely linked.

Autosomal Inheritance: Somatic cells of any organism contain diploid number of

chromosome. Human somatice cell (2N) contain 23 pairs of chromosomes. They are divided
into autosomes & sex chromosomes. Out of which 22 pairs are autosome & remaining one
pair is sex chromosome. For determination of sex, one pair of sex chromosome is involved.
Autosome control all the characters except sex. These traits are called autosome linked trait,
& transmission of this trait is called autosomal inheritance. Some characters are influenced
by dominant genes while some are influenced by recessive genes, present on autosome.
e.g. Autosomal dominant traits like widow’s peak & Huntingten’s disease.

Autosomal recessive traits like Phenyl ketonuria (PKU), cystic fibrosis & sickle cell
anaemia.

a) Widows’s peak: It is determined by autosomal dominant

gene. A prominent ‘V’ shaped hairline is observed on forehead
is called widow’s peak. It occurs in homozygous dominant (WW)
& also heterozygous (Ww) individuals. The individual with
homozygous recessive (ww) genotype have a straight hair line
(no widow’s peak). Both male & female have equal chance of Fig. Widow’s peak and straight
inheritance. hair line

b) Phenyl / Ketonuria (PKU): It is an inborn metabolic disorder. It is due to recessive

autosomal genes. When recessive genes are present in homozygous condition, phenylalanine

K.S. Notes 47 Inheritance and Variation

 hydroxylase enzyme is not produced. This enzyme is responsible for conversion of amino
acid phenylalanine into tyrosine. But due to absence of this enzyme , tyrosine is not
produced, so phenylalanine is accumulated into the blood & CSF. It affects the development
of brain & causes mental retardation. Excess phenylalanine is excreted in urine, so the name
is given phenylketonuria. This trait appears in both sexes equally.

Sex linked inheritance: Genes located on the non homologous part of sex chromosomes are
called sex linked genes. The traits determined by sex linked genes are called sex linked traits.
Their inheritance from parents to offsprings is called sex linked inheritance. There are two
types of sex linked genes. i.e. X-linked genes & Y-linked genes.

a)X-linked genes: X-linked genes are located on the non homologous part of X-chromosome.
Female has two X-chromosomes. Two recessive sex linked gens are required for expression
of characters in females. If one X-chromosome carries a recessive gene, its effect is
suppressed by dominant gene present on other X-chromosome. The female with one recessiv
gene are carriers. The carrier female is normal because she does not suffer from any disease.

In spite of this, male has only one X-chromosome. If X-chromosome carries X-linked
recessive gene, then it is expressed because there is no dominant gene on Y-chromosome to
suppress it. Therefore X-linked traits appear more frequently in males than in female. e.g.
Haemophilia, colourblindness, night blindness, myopia (short sightness), muscular dystrophy.

b) Y-linked (Holandric genes): Genes located on the non homologous part of Y-chromosome
are called Y-linked genes. These genes are directly inherited from male to male. In man, Y-
linked genes such as hypertrichosis is responsible for excessive hair on ear pinna. This
character is directly transfer from farther to his son.

Colourblindness: It is X-linked recessive disorder where person is unable to distinguish

between red & green colour. Both the colours appear as grey. It is due to recessive X-linked
genes ( X c ). This recessive gene prevents formation of colour sensitive cells (cones) in the
retina of eye.

The homozygous recessive females (Xc Xc) & hemizygous recessive male (Xc Y) are
affected from colourblindness. The frequency of colourblind women is much less than
colourblind men. Dominant X-linked genes ( XC ) are responsible for formation of colour
sensitive cell in the retina. The genotype of male & female individuals are as follow.
Sex Normal Colour blind Carrier

Male XC Y Xc Y .......
Female XC XC X c Xc X Xc
C

The transmission of colourblindness can be studied

by two types of marriages as follow :

1) Marraige between colourblind male with normal female,

will produce normal visioned male & female offsprings
i n F 1 generation. The sons have normal vision but daughter
will be carrier for colourblind.
Fig. Sex linked inheritance
(colour blindness)

K.S. Notes 48 Inheritance and Variation

 2) Marriage between carrier female & normal male will
produce normal female offsprings & half of them will be
carrier. Half of male offsprings will be normal & remaining
half will be colourblindness.

From the above, it is concluded that the X-linked

recessive gene for colourblindness is inherited from colour-
blindness father to his grandson through his daughter. It
means it is transferred from male to female & then male.
Such type of inheritance is called Criss-Cross inheritance.
Fig. Sex linked inheritance
Haemophilia (Bleeder’s disease): Haemophilia is X-linked (colour blindness)
recessive disorder. Blood clotting fails or coagulates very
slowly. The person having recessive gene for haemophilia is deficient in clotting factors (VIII
or IX) in blood. Minor injuries may cause continuous bleeding, so haemophilia is also called
Bleeder’s disease. The recessive gene for haemophilia is located on the non homologous part
of X-chromosome. As there is no corresponding allele on Y-chromosome to suppress it, so
men suffer from this disease. Women suffers when both X-chromosomes have recessive
genes. The genotype of male & female can be represented as follow :

Sex Normal Haemophilic Carrier

Male XH Y Xh Y .......
Female XH XH X h Xh XH Xh

Like Colourblindness, haemophilia also show criss cross inheritance. We can study its
inheritance with the help of following examples :

1) Marriage between haemophilic male & normal female.

2) Marriage between carrier female & normal male .

Fig. Sex linked inheritance Fig. Sex linked inheritance

(Haemophilia) (Haemophilia)
Sex determination: The system or mechanism by which sex is established is called as sex
determination. In some living organisms, both male & female sex organs are present in the
same organism, called bisexual/ hermaphrodite / monoecious. But in some other living
organisms, either male or female sex organs are present in the body, called dioecious /
unisexual. Human is dioecious.

Henking in 1891, while studying spermatogenesis of squash bug ( Anasa tristis ) noted
that 50% of sperms receive the unpaired chromosome while other 50% sperm do not receive

K.S. Notes 49 Inheritance and Variation

 it. Henking gave the name as ‘X-body’ . But in further investigation, it was called as X-
chromosomes.

a) Sex determination in human beings: Sex determination

in human being is XX-XY type. In human, somatic cell
contains 23 pairs of chromosomes. Out of which 22 pairs are
autosome & one pair is sex chromosome. Human female has
XX homomorphic sex chromosomes while human male has
XY, heteromorphic sex chromosomes. Thus genotype of
Female = 44 autosome + XX & male = 44 autosome + XY

During gametogenesis in male, two types of haploid

sperms are produced 50% sperms contains 22 autosomes &
X-chromosomes while 50% sperm contains 22 autosomes &
Y-chromosomes. In female during oogenesis, only one type
of gamete is produced, which contain 22 autosome &
X-chromosomes. Thus , human male is heteroogametic &
female is homogametic. Fig. Sex determination in
human beings
If X-containing sperm fertilizes the egg, then female
child is produced. If Y-containing sperm fertilizes the egg, then male child is produced.

This indicates that father is responsible for determination of sex of child & not the
mother.

Sex determination in birds: Sex determination in birds

are ZW - ZZ type. In birds females are heterogametic
which produces two types of eggs i.e. 50% eggs carry
Z-chromosomes & 50% eggs carry W-chromosomes.
Male birds are homogametic produce only one type of
sperm. Each sperm carriers a Z-chromosomes. In this, sex
of individual depends on the type of egg fertilized
by sperm.
Fig. Sex determination in birds
Sex determination in Honey bees:

Sex determination in honey bee is haplo-diploid

type. In honey bee, sex of individual is determined by the
number of sets of chromosomes received. Females are
diploid (2N = 32) & males are haploid (N = 16) . Female
produces haploid sperm (N = 16) by meiosis & male
produces haploid sperm (N = 16) by mitosis. If fertilization
takes place between egg & sperm, it produces diploid
female (2N = 32) (queen & worker) & unfertilized egg
develops into haploid male ( N = 16) (Drone) by Fig. Sex determination in honey bee
parthenogenesis. The Larvae of diploid female which gets
royal jelly as food develops into queen (fertile female) & other develops into workers (sterile
females).

K.S. Notes 50 Inheritance and Variation

Genetic disorders: Genetic disorders are mainly divided into two categories.
a) Mendelian disorders: It is caused due to alternation or mutation in the gene. e.g.
Thalassemia, sickle cell anaemia, colourblindness, haemophilia & phenyl ketonuria.
b) Chromosomal disorders: It is caused due to absence or excess of one or more
chromosomes or due to their abnormal arrangement. e.g. Down’s syndrome, Turner’s
syndrome. Klinfelter’s syndrome.

Thalassemia: It is autsomal, inherited recessive disease. Haemoglobin is made up of 4

polypeptide chain i.e. 2 alpha & 2 Beta chains. Alpha chain is controlled by two genes i.e.
HBA1 & HBA2 on 16th chromosome while beta chain is controlled by a single gene i.e. HBB
on 11th chromosome. On the basis of which thalassemia is classified as alpha Thalassemia &
beta thalassemia. As a result of these two types abnormal synthesis of Haemoglobin takes
place. It shows following symptoms.
Symptoms: Anaemia, pale yellow skin, change in size &
shape of RBC. Slow growth & development, dark urine.
Cure: Blood transfusion is required to these patients.

Down’s syndrome:

Fig. Down’s syndrome Fig. Karyotype of Down’s syndrome

It is an autosomal chromosomal disorder discovered by Down in 1866.

It is due to an extra chromosome on 21st, so it shows 3-chromosomes instead of

homologous pair on 21st. So, these individuals have 47 chromosomes. Trisomy is occuring on
21st .

Symptoms: Poor skeletal development, moderate mentally retarded, small head, ears &
mouth. Face is typically flat & rounded with flat nose, open mouth, protruding tongue, slanting
eyes, epicanthal fold (folding of upper eyelid), flat hands, stubby fingers (short & thick) &
palm is broad with single crease (single line).

Turner’s syndrome: (X-monosomy / XO females)

It is sex chromosomal disorder. This individual has 44 autosomel & XO sex

chromosome. This syndrome is generally observed in female.

Symptoms: Short stature (height), webbed neck, lower posture hair line (low hair line at back
of neck), broad shield shaped chest, poorly developed ovaries & breast, & low power of
intelligence.
Klinfelter’s syndrome (XXY males): It is sex chromosomal disorder caused due to an extra
chromosome in males. The genotype of individual become 44 + XXY. Such males are
described as feminized males. Individual is male & show over all musculine development
(male).

K.S. Notes 51 Inheritance and Variation

Symptoms: Pitched voice, under developed testis, arms are long, feminine development
(development of breast), no spermatogenesis & so individuals are sterile.

Multiple Choice Questions

1. Phenotypic ratio of incomplete dominance in Mirabilis jalapa.

a. 2 : 1 : 1 b. 1 : 2 : 1 c. 3 : 1 d. 2 : 2

2. In dihybrid cross, F2 generation offsprings show four different phenotypes while the
genotypes are ................ a. six b. nine c. eight d. sixteen

3. A cross between an individual with unknown genotype for a trait with recessive plant for
that trait is ..............
a. back cross b. reciprocal cross c. monohybrid cross d. test cross

4. When phenotypic and genotypic ratios are the same, then it is an example of ............
a. incomplete dominance b. complete dominance
c. Multiple alleles d. cytoplasmic inheritance
5. If the centromere is situated near the end of the chromosome, the chromosome is called .....
a. Metacentric b. Acrocentric c. Sub-Metacentric d. Telocentric

6. Chromosomal theory of inheritance was proposed by ................

a. Sutton and Boveri b. Watson and Crick c. Miller and Urey d. Oparin and Haldene

7. If the genes are located in a chromosome as p-q-r-s-t, which of the following gene pairs will
have least probability of being inherited together?

a. p and q b. r and s c. s and t d. p and s

8. Find the mis match pair :-

a. Down’s syndrome = 44 + XY b. Turner’s syndrome = 44 + XO
c. Klinefelter syndrome = 44 + XXY d. Super female = 44 + XXX
9. A colourblind man marries a woman, who is homozygous for normal colour vision ,the
probability of their son being colourblind is –
a. 0% b. 25% c. 50% d. 100%

10. Transmission of the characters from generation to generation is known as:

a. Genetics b. Evolution c. Reproduction d. Heredity

11. If additional circular DNA found in prokaryotic cell called as :

a. Nucellus b. Plasmid c. Chromatophore d. Centromere

12. Chromosomes are invisible in nucleus but can be easily seen during :
a. Cytolysis b. Cell division c. Plasmolysis d. Nucleolysis

13. Two arms present in chromonemata of chromosome are known as :

a. Chromataphores b. Chromatids c. Chromomeres d. Centromeres

14. The tip part of chromosome is called as :

a. Acrosome b. Microsome c. Telosome d. Centrosome

K.S. Notes 52 Inheritance and Variation

 15. Chromosomes are classified into different types according to the position of :
a. Telomere b. Centromere c. Satellite d. Constrictions

16. In which chromosome there is only one arm and appears rod shaped called as:
a) Telocentric b) Metacentric c) sub metacentric d) Acrocentric

17. Diploid number of chromosomes (2n) in every somatic cell in the body of human:
a) 44 b) 45 c) 46 d) 48

18. Genotypes of human zygote is:

a) 44 AA + XX b) 44 AA + XY
c) 44 AA + XX or 44 AA + XY d) 44AA + XX or 44AA + YY

19. A male child will born in which:

a) Father healthier than mother b) Mother feeds well during pregnancy
c) Genetic combination of zygote is XY d) Father every time produce only y sperms

20. A male child recieves Y chromosome from:

a) Mother only b) Father only
c) Mother or father as per time of fertilization d) 50% from mother and 50% from father

21. Sex chromosomes are found in:

a) Testes in male b) ovary in female c) Both testis and ovary d) All cells in body
22. All the genes present on chromosome are said to be:
a) Autosomal genes b) Sex-linked genes c) genotypes d) Linked genes
23. Trisomy of the chromosomal number 21 in human i.e. addition of one extra chromosome
called as:
a) Klinefelter syndrome b) Turner’s syndrome
c) Down’s syndrome d) Burkitt’s syndrome

24. Which of the following is characterized by 45 chromosomes?

a) Down’s syndrome b) Klinefelter syndrome c) Turner’s syndrome d) Super male
25. In honey bees unfertilized eggs are converted in to:
a) Sterile workers b) Fertile workers c) Fertile males d) Sterile males
Very Short Answer Questions.
1. Explain the statements : a. Test cross is back cross but back cross is not necessarily a test
cross. b. Law of dominance is not universal.

2. Define the following terms: a. Dihybrid cross b. Homozygous

c. Heterozygous d. Test cross

3. What is allosome?

K.S. Notes 53 Inheritance and Variation

4. What is crossing over?

5. “Father is responsible for determination of

sex of child and not the mother”. Justify.

5. Give one example of autosomal recessive

disorder. 6. What is linkage? How many linkage groups
do occur in human being?

7. Write note on –PKU .

6. What are X-linked genes?

8. Compare - X-chromosome and

Y?chromosome.
7. What are holandric traits?

9. Explain the chromosomal theory of

inheritance.

8. Give an example of chromosomal disorder

caused due to non-disjunction of autosomes. 10. Observe the given pedigree chart and
answer the following questions.

9. Give one example of complete sex linkage?

a. Identify whether the trait is sex linked or

autosomal.
Short Answer Questions:
1. Enlist seven traits of pea plant selected/ b. Give an example of a trait in human
studied by Mendel. beings which shows such a pattern of
inheritance.

2. Why law of segregation is also called the

Q.
law of purity of gametes?

3. Write a note on pleiotropy.

4. What are the reasons of Mendel success?

K.S. Notes 54 Inheritance and Variation

 * Long answer type questions. 8. Describe the different types of
choromosomes.
1. What is dihybrid cross? Explain with suitable
example and checker board method.

2. Explain with suitable example an independent

assotrment.

3. Define test cross and explain its significance.

4. What is parthenogenesis? Explain the haplo-

diploid method of sex determination in Honey
bee.

5. In the answer for inheritance of X-linked

genes, Madhav had shown carrier male. His
answer was marked incorrect. Madhav was
wondering why his marks were cut. Explain the
reason.

6. With the help of neat labelled diagram,

describe the structure of chromosome.

7. What is cris-cross inheritance? Explain with

suitable example.

K.S. Notes 55 Inheritance and Variation