CHAPTER 5

PRINCIPLES OF INHERITANCE AND VARIATION

GENETICS :- Branch of biology which deals with heredity and variation.

• Heredity: Process by which characters are passed on , from parents to progeny.

It is the basis of heredity.
• Variation: It is the degree by which progeny differ from their parents.

FATHER OF GENETICS- Gregor Johann Mendel (1822-1884)

 Mendel was an Austrian monk. He conducted many hybridization experiments on

garden pea plant Pisum sativum and proposed the laws of inheritance of characters in
organisms.
TERMINOLOGY IN GENETICS
• Gene :- Unit of inheritance, contains information for the expression of a particular trait
in an organism. Eg. Gene T controlling plant height
• Locus:- The position of gene on the chromosome.
• Alleles:- Genes that code for a pair of contrasting traits. They are alternate expression
of the same gene. Eg. T and t ( T- Tall, t-Dwarf )
• Homozygous :- Condition in which both the alleles of a character are identical.
Eg. TT, tt
• Heterozygous:- Condition in which the alleles are not identical. Eg. Tt
• Dominant allele:- The factor which expresses both in homozygous and heterozygous
condition. It expresses itself even in the presence of its contrasting allele. Eg. T
• Recessive allele:- The factor which fails to express itself in the presence of its contrasting
allele. A recessive factor expresses itself only in homozygous condition . Eg. T
• Phenotype:- Observable characters of an organism. Eg. Tall,Dwarf
• Genotype:- Genetic constitution of an organism. Eg. TT, Tt, tt
• Hybrid:- The offspring produced by a cross between two individuals differing in one or
more characters. Eg. Tt
• Monohybrid cross:- Cross between two parents differing in one pair of contrasting
characters. Eg. Tall x Dwarf
• Dihybrid cross:- Cross between two parents differing in two pairs of contrasting
characters. Eg. Tall Red x Dwarf White
• F1 Generation:- First Filial Generation.Generation of offsprings produced in a cross
between two genetically different bur pure parents.
• The symbols & and are used to denote the female (eggs) and male (pollen) of the F1
generation, respectively.
• F2 Generation:- Second Filial Generation. Generation of offsprings produced in a cross
between two F1 individuals.
• Test cross:- Cross that is made between the hybrid and the pure recessive parent.It is
used to determine the genotype of an individual showing the dominant phenotype.
Eg. Tt x tt
PUNNETT SQUARE
It is a graphical representation to calculate the probability of all possible genotypes of offsprings
in a genetic cross.
The possible gametes are written on two sides , the top row and left columns.
All possible combinations are represented in boxes below in a square output form.
MENDEL’S HYBRIDIZATION EXPERIMENTS

Mendel conducted hybridization experients using true breeding pea lines. A true breeding line
is that,
i. having undergone continuous self pollination
ii. shows stable trait inheritance and expression for several generations
Mendel selected 14 true breeding pea plants, as pairs which were similar except for one
character with contrasting traits.

INHERITANCE OF ONE GENE- MONOHYBRID CROSS

 It is a cross between two parents differing in one pair of contrasting characters.

 Mendel crossed a true breeding tall plant and a dwarf plant- to study the inheritance of
one gene.
 Mendel observed that all the F1 progeny plants were tall, like one of its parents; none
were dwarf .
 He made similar observations for the other pairs of traits – he found that the F1 always
resembled either one of the parents, and that the trait of the other parent was not
seen in them.
 Mendel then self-pollinated the tall F1 plants to get the F2 generation. 1/4th of the F2
plants while 3/4th of the F2 plants were tall (3:1 ratio)

Explanation of results based on binomial expression
• In this cross, when F1 plants were self pollinated, they produce gametes of genotype ‘T’
and ‘t’ in equal proportion.
• During fertilization pollen of genotype ‘T’ has 50% chance to pollinate eggs of genotype
‘T’ as well as ’t’. Also pollen of genotype ’t’ have 50% chance to pollinate egg of
genotype ‘T’ as well as ‘t’.
• As a result, zygote can be of genotype TT or Tt or tt. i.e ¼ th of random fertilization
th
lead to TT, 1/2 of random fertilization lead to Tt and ¼ of random fertilization lead to
tt
• This lead to the genotypic ratio ¼ TT :1/2 Tt : ¼ tt
• Mathematically (1/2 T + ½ t)2 = ¼ TT : ½ Tt : ¼ tt

Based on his observations on monohybrid crosses Mendel proposed two general rules

LAW OF DOMINANCE
• Characters are controlled by discrete units called factors.
• Factors occur in pairs.
• In a dissimilar pair of factors, one member of the pair dominates (dominant) the other
(recessive)
 LAW OF SEGREGATION
• Two alleles of a pair representing a character, will segregate or separate from each other
during gamete formation, so that a gamete receives only one of the two factors (never
both).
• The paired condition is restored during gamete fusion.

TEST CROSS
 Cross that is made between the hybrid and the pure recessive parent.
 It is used to determine the genotype of an individual showing the dominant
phenotype.
 To determine the genotype of a tall plant in F2 , Mendel crossed the tall plant
with a dwarf plant


INHERITANCE OF TWO GENES-DIHYBRID CROSS

Cross between two parents differing in two pairs of contrasting characters.

Mendel crossed pea plants producing round yellow seeds with those producing wrinkled
green seeds.
LAW OF INDEPENDENT ASSORTMENT

Based upon such observations on dihybrid crosses (crosses between plants differing in two traits)
Mendel proposed Law of Independent Assortment.

The law states that ‘when two pairs of traits are combined in a hybrid, segregation of one pair of
characters is independent of the other pair of characters’.

• Eg. Two gene pairs in RrYy plant :-

Segregation of gene pairs R and r (representing seed shape-round/wrinkled) is independent of
the segregation of gene pairs Y and y ( representing seed colour-yellow/green)

 Fifty per cent of the gametes have the gene R and the other 50 per cent have r.
 Besides each gamete having either R or r, it should also have the allele Y or y.
 Segregation of 50 per cent R and 50 per cent r is independent from the segregation of
50 per cent Y and 50 per cent y.
 Therefore, 50 per cent of the r bearing gametes has Y and the other 50 per cent has y.
 Similarly, 50 per cent of the R bearing gametes has Y and the other 50 per cent has y.
 Thus there are four genotypes of gametes (four types of pollen and four types of eggs).
 The four types are RY, Ry, rY and ry each with a frequency of 25 per cent or 1/4th of the
total gametes produced
INCOMPLETE DOMINANCE

 Type of inheritance in which one allele is not completely dominant over the other.
 Eg.Inheritance of flower colour in Snapdragon/ dog flower (Antirrhinum)
 In a cross between true breeding red flowered plants (RR) with true breeding white
flowered plants (rr),F1 was pink flowered(Rr)-did not resemble either of the two
parents and was in between the two


MULTIPLE ALLELISM

 Presence of more than two alleles for a gene .

 Here more than two alleles govern the same character.
 Since an individual possesses only two alleles of a gene, multiple allelism can be found
only when population studies are made.

Eg. Gene that controls blood group inheritance ‘I’.

• ‘I’ controls the type of sugar polymer produced on the surface of RBCs.
• Gene I has three alleles- IA, IB and I
• IA and IB are dominant , i is recessive.
• Since humans are diploid organisms, each individual possesses only two of the three
alleles.
• Since there are three alleles, six different combinations are possible.

 Alleles IA and IB produce slightly different form of sugar polymer, while allele i does not
produce any sugar.

CODOMINANCE
 Type of inheritance in which both the alleles are equally dominant.
 Eg. Inheritance of AB blood group in man
 Alleles IA and IB are equally dominant / codominant alleles- both express their own types
of sugars.

POLYGENIC INHERITANCE

 Type of inheritance in which traits are controlled by three or more genes.

Features:-
 Involvement of multiple genes, effect of each allele is additive.
 Takes into account the influence of the environment.

Eg. Height and skin colour in humans

• Human skin colour is controlled by three genes A, B, C
• The dominant forms A,B,C are responsible for dark skin colour and the recessive forms
a,b,c are responsible for light skin colour.
• The genotype with all dominant alleles (AABBCC) will have the darkest skin colour and
that with all recessive alleles (aabbcc) will have the lightest skin colour.
• The genotype with three dominant alleles and three recessive allleles (AaBbCc) will have
intermediate skin colour.
PLEIOTROPY

 Phenomenon in which single gene exhibits multiple phenotypic expression.Such a gene

is called a pleiotropic gene.
 Eg. The disease phenylketonuria
• Phenylketonuria- is caused by mutation in the gene that codes for the enzyme phenyl
alanine hydroxylase (single gene mutation)
• Phenotypic expression of gene mutation is characterized by mental retardation, skin
pigmentation, reduction in hair
SINGLE GENE PRODUCING MORE THAN ONE EFFECT
• Starch synthesis in pea seeds is controlled by a gene which has two alleles ‘B’ and ’b’.
• If consider the phenotype seed shape, allele B shows dominance over allele b
• If we consider starch grain size, the alleles show incomplete dominance.

Genotype Efficiency of Size of starch Shape of

starch grains the seed
synthesis after
maturation

BB Greater Large Round

efficiency

Bb Intermediate Intermediate Round

efficiency

bb Lesser Small Wrinkled

efficiency