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Principles of Inheritance and

Variation class 12 Notes
Biology
March 1, 2019 by myCBSEguide

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Notes Chapter 5 Principles of
Inheritance and Variation
Genetics is the study of principles and
mechanism of heredity and variation.
Gregor Johann Mendel is known as ‘father
of Genetics’.

Inheritance is the process by which

characters are passed on from
parent to progeny. It is the basis of
heredity.
Variation is the degree by which
progeny differ from their parents.
Variation may be in terms of
morphology, physiology, cytology
and behavioristic traits of individual
belonging to same species.
Variation arise due to
Reshuffling of
gene/chromosomes.
Crossing over or recombination
Mutation and effect of
environment.

Mendel’s Law of Inheritance: Mendel

conducted hybridization experiments on
garden pea (Pisum sativum) for seven
years and proposed the law of inheritance
in living organisms.

Selection of pea plant: The main reasons

for adopting garden pea (Pisum sativum)
for experiments by Mendel were –

Pea has many distinct contrasting

characters.
Life span of pea plant is short.
Flowers show self-pollination,
reproductive whorls being enclosed
by corolla.
It is easy to artificially cross-pollinate
the pea flowers. The hybrids thus
produced were fertile.

Working method: Mendel’s success was

also due to his meticulous planning and
method of work –

He studied only one character at a

time.
He used all available techniques to
avoid cross-pollination by
undesirable pollen grains.
He applied mathematics and
statistics to analyse the results
obtained by him.
Mendel selected 7 contrasting
characters of garden pea for his
hybridization
experimentsContrasting Characters
Studied by Mendel in Pea

Character Contrasting character

Stem height Tall/D

Flower colour Violet/

Flower position Axial/Te

Pod shape Inflated/Co

Pod colour Green/

Seed shape Round/w

Seed colour Yellow/

Mendel conducted artificial

hybridization/cross pollination using
true breeding pea lines. True
breeding lines are those that
undergo continuous self-pollination
and shows stable trait inheritance.
Hybridization experiment includes
emasculation (removal of anther)
and transfer of pollen (pollination).

Inheritance of one gene

(Monohybrid cross)
Mendel crossed tall and dwarf pea plant
and collected all the seeds obtained from
this cross. He grew all the seeds to
generate plants of first hybrid generation
called F1 generation. He observed that all
the plants are tall. Similar observation was
also found in other pair of traits.

Mendel self-pollinated the F1 plants and

found that in F2 generation some plants are
also dwarf. The proportion of dwarf plants
is 1/4th and tall plants of 3/4th.

Mendel called the ‘factors’ that

passes through gametes from one
generation to next generation. Now a
day it is called as genes (unit of
inheritance).
Genes that code for a pair of
contrasting traits are known as
alleles.
Alphabetical symbols are used to
represent each gene, capital letter
(TT) for gene expressed in F1
generation and small letter (tt) for
other gene.
Mendel also proposed that in true
breeding tall and dwarf variety allelic
pair of genes for height is
homozygous (TT or tt). TT, Tt or tt
are called genotype and tall and
dwarf are called phenotype.
The hybrids which contain alleles
which express contrasting traits are
called heterozygous (Tt).
The monohybrid ratio of F2 hybrid is
3:1(phenotypic) and
1:2:1(genotypic).

Test cross is the cross between an

individual with dominant trait and a
recessive organism in order to know
whether the dominant trait is homozygous
or heterozygous.

Principle or Law of Inheritance

Based on observations of monohybrid

cross, Mendel proposed two law of
inheritance-

1. Law of dominance– states that –

a. Characters are controlled by discrete

units called factors.
b. Factors always occur in pair.
c. In a dissimilar pair of factors one
member of pair dominate the other.

Dominance

(i) When a factor (allele) expresses itself in t

(ii) It forms a complete functional enzyme tha

2. Law of Segregation- alleles do not

blends and both the characters are
recovered during gametes formation as in
F2 generation. During gametes formation
traits segregate (separate) from each other
and passes to different gametes.
Homozygous produce similar kinds of
gametes but heterozygous produce to
different kinds of gametes with different
traits.

Incomplete dominance
It is a post Mendelian discovery.
Incomplete dominance is the
phenomenon of neither of the two
alleles being dominant so that
expression in the hybrid is a fine
mixture or intermediate between the
expressions of two alleles.
In snapdragon (Mirabilis jalapa),
there are two types of pure breeding
plants, red flowered and white
flowered. On crossing the two, F1
plants possess pink flowers. On
selfing them, F2 generation has 1red:
2 pink: 1white. The pink flower is due
to incomplete dominance.

Co-dominance
It is the phenomenon of two alleles
lacking dominance-recessive
relationship and both expressing
themselves in the organism.
Human beings, ABO blood grouping
are controlled by gene I. The gene
has three alleles IA, IB and i. Any
person contains any two of three
allele IA, IB are dominant over i.
The plasma membrane of the red
blood cells has sugar polymers that
protrude from its surface and the
kind of sugar is controlled by the
gene.
When IA and IB are present together,
both express their own types of
sugars because of co-dominance.

Incomplete Dominance

1. Effect of one of the two alleles is more con

2. It produces a mixture of the expression of

3. The F1 does not resemble either of the par

E.g.: Flower colour in dog flower.

Multiple Alleles
They are multiple forms of a medelian
factor or gene which occur on the same
gene locus distributed in different
organisms in the gene pool with an
organism carrying only two alleles and a
gamete only one allele. ABO blood grouping
also provides a good example of multiple
alleles.

Inheritance of Two genes

(Dihybrid Cross)
A cross made to study simultaneous
inheritance of two pairs of mendelian
factors of genes.

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’.In Dihybrid cross
two new combinations, round green &
wrinkled yellow are formed due to
independent assortment of traits for seed
shape i.e round, wrinkled and seed color i.e
, yellow and green.

The ratio of 9:3:3:1 can be derived as a

combination series of 3 yellow: 1 green,
with 3 round : 1 wrinkled. This derivation
can be written as follows: (3 Round : 1
Wrinkled) (3 Yellow : 1 Green) = 9 Round,
Yellow : 3 Wrinkled, Yellow: 3 Round, Green
: 1 Wrinkled, Green

Chromosomal Theory of
Inheritance
Chromosome as well as gene both
occurs in pair. The two alleles of a
gene pair are located on the same
locus on homologous chromosomes.
Sutton and Boveri argued that the
pairing and separation of a pair of
chromosomes would lead to
segregation of a pair of factors
(gene) they carried.
Sutton united the knowledge of
chromosomal segregation with
mendelian principles and called it the
chromosomal theory of inheritance.

Linkage and Recombination

When two genes in a Dihybrid cross
were situated on same chromosome,
the proportion of parental gene
combination was much higher than
the non-parental type. Morgan
attributed this due to the physical
association or the linkage of the two
genes and coined the linkage to
describe the physical association of
genes on same chromosome.
The generation of non-parental gene
combination during Dihybrid cross is
called recombination. When genes
are located on same chromosome,
they are tightly linked and show very
low recombination.Difference
between crossing over and
linkage

Linkage

1. keeps t

hromatics of homologous chromosomes. 2. It involv

3. The nu

ns. 4. It reduc

Sex Determination
Henking in 1891 observed a trace of
specific nuclear structure in few
insects. He also observed that this
specific nuclear structure is located
on 50% of sperms only. He called
this x body. He was not able to
explain its significance.
Latter it was observed that the ovum
that receive the sperms with x body
become female and those not
becomes males, so this x body was
called as sex chromosome and
other chromosomes are called
autosomes.
In humans and other organisms XY
types of sex determination is seen
but in some insects like Drosophila
XO type of sex determination is
present.
In both types of sex determination,
male produce two different types of
gametes either with or without X
chromosome or some with X
chromosome and some with Y
chromosomes. Such types of sex
determination are called male
heterogamety.
In birds ZW type of sex
determination is present., two
different types of gametes are
produced by females in terms of sex
chromosomes; this type of sex
determination is called female
heterogamety.
Sex determination in human
beings XY type. Out of 23 pairs of
chromosomes, 22 pairs are exactly
same in male and female called
autosomes. A pair of X chromosome
is present in female and XY in male.
During spermatogenesis, male
produce two type of gametes
(sperms), 50% carries Y
chromosome and remaining 50%
contain X chromosome. Female,
produce only one kind of gamete
(ovum) having X chromosomes only.
When sperm having Y chromosome
the sex of baby is male and when
sperm carrying X chromosome
fertilse the egg, the sex of baby is
female.

Mutationis a phenomenon which results in

alternation of DNA sequence and
consequently results in the change in the
genotype and phenotype of an organism.
The mutations that arise due to due to
change in single base pair of DNA are
called point mutation e.g Sickle cell
anaemia.

Pedigree Analysis
The analysis of traits in several of
generation of a family is called the
pedigree analysis. The inheritance
of a particular trait is represented in
family tree over several generations.
It is used to trace the inheritance of
particular trait, abnormality and
disease.

Genetic Disorders
Broadly, genetic disorders may be grouped
into two categories – Mendelian disorders
and Free NCERT Solutions Class 3 to 12
Chromosomal disorders.
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