ARMY PUBLIC SCHOOL GOPALPUR

CLASS-XII Science SUBJECT - BIOLOGY

CHAPTER–5

PRINCIPLES OF INHERITANCE AND VARIATION

NOTES

1. Heredity: – It can be defined as the transmission of characters from one generation to

successive generations of living organisms. These hereditary characters are present on
the chromosomes in the form of genes.
2. Alleles: – The various forms of a gene are called alleles.
3. Phenotype: – The external / observable characteristics of an organism constitute its
phenotype.
4. Genotype: – The genetic constitution of an organism is its genotype.
5. Homozygote: – It is an individual organism in which the members of a pair of alleles for
a character are similar.
6. Heterozygote: – It is an individual organism in which the members of a pair of alleles of
a character are different.
7. Dominant character: – The form of the character which is expressed in the F1 hybrid is
called dominant character.
8. Recessive character: – The form of the character which is suppressed in the presence of
the dominant character in a hybrid is called recessive character.
9. Monohybrid cross: – It is a cross between individuals of the same species, in which the
inheritance of contrasting pairs of a single trait is considered.
10. Dihybrid cross: – It is a cross between two individuals of the same species, in which the
inheritance of contrasting pairs of two traits is considered.
11. Punnett square: a graphical representation used to determine the probability of an
offspring expressing a particular genotype
12. 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.

Gregor Johann Mendel was born in 1822. He began his genetic experiments on garden pea in
1856 in the garden at the monastery.

o Mendel conducted hybridization experiments on garden peas for seven years (1856-1863).
On the basis of these experiments he proposed the laws of inheritance.
o He selected the characters that has two opposing traits and concluded his hybridization
experiments on 14 true-breeding pea plant varieties. True-breeding means a breeding line
which has undergone continuous self-pollination and shows stable trait inheritance and
expression for many generations.
 Reasons for selecting garden pea plant pea (Pisum sativum)
1. Easily available on large scale.
2. There are many varieties with distinct characteristics.
3. They are self-pollinated and can be cross-pollinated easily.
4. They have a short life cycle.

Reason for success of Mendel:

1. He studied one character at a time.
2. He used available techniques to avoid cross pollination by undesirable pollen grains.
3. He applied mathematics and statistics to analyze the results obtained from him.
4. Mendel selected seven contrasting characters for the experiment.

INHERITANCE OF ONE GENE (MONOHYBRID CROSS)

Mendel crossed tall and dwarf pea plant and collected the seeds from them. Seeds were used
to generate plants of first generation (F1 or Filial progeny). Mendel observed that all the first
generation plants were tall, none of them were dwarf. He made similar observations for the
other pairs of traits. He concluded that F1 generation resembled either one of the parents.

He then self-pollinated the tall F1 plants and he observed that some of them were dwarf. Out of
all, ¼th were dwarf and 3/4th were tall.
 Monohybrid cross

Similar results were obtained for other traits too. In F2 generation, both the traits were
expressed in proportion of 3:1. Dominant trait in F2 is about thrice of the recessive from. These
contrasting traits did not show any blending at either F 1 or F2 stage.
Based on these observations, he concluded that something was being stably passed from one
generation to the other. He named it ‘factors’ which are now called as ‘genes’.

Gene is the unit of inheritance. It contains information that is required to express a particular
trait in an organism. Genes which code for a pair of contrasting traits are known as ‘alleles’.
They are slightly different for a same gene.

For representing traits using alphabetical symbols, capital letter is used for the trait expressed
at F1 generation and small letter is used for the other one.
For example: T for tall trait

t for dwarf.

T and t are alleles of each other. Pair of alleles for height in the plants are TT, Tt and tt.

TT and tt are homozygous. TT and tt are called genotype of the plant while the description
terms tall and dwarf are phenotype. Tt represents heterozygous.
Test cross- is the cross between an individual with dominant trait and a recessive
organism. It helps us to understand whether the dominant trait is homozygous or
heterozygous.

The production of gametes by the parents, formation of zygotes can be easily understood by
Punnett square. It was given by British geneticist RC Punnett. It is a graphical representation
used to calculate probability of all possible genotypes of offspring in a genetic cross.
It is typically used for monohybrid cross conducted by Mendel between true-breeding tall plants
and true-breeding dwarf plants.

LAW OF DOMINANCE
This law states that when two contrasting genes for a character come together in an organism,
only one is expressed externally and shows visible effect. It is called dominant and the other
gene of the pair which does not express and remains hidden is called recessive.

o Characters are controlled by discrete units called factors.

o In a dissimilar pair of factors one member of pair dominate the other. For example: allele of
tallness (T) is dominant over allele of dwarf (t).

LAW OF SEGREGATION
It states that every individual possess two alleles of a gene and these alleles segregate from
each other during gamete formation (at the time of meiosis). Alleles do not blend and both the
characters are recovered during gamete formation in F2 generation.
Homozygous individuals produce one type of gametes while heterozygous individuals produce
two types of gametes each having one allele with equal proportion.

INCOMPLETE DOMINANCE
When neither of the alleles of a character is completely dominant over the other and the F1
hybrid is intermediate between the two parents, the phenomenon is called incomplete
dominance.

The most common example of incomplete dominance is that of flower colour in 4’O clock
plant. Homozygous red (RR) flowered variety was crossed with white (rr) flowered variety. F1
offspring had pink flowers (Rr). This is called incomplete dominance. Incomplete dominance is
also known to occur in snapdragon. The phenotypic ratio and genotypic ratio in F2 generation
in case of incomplete dominance is 1:2:1.
 Incomplete dominance.

Genotypic ratio was same as we would expect in Mendelian monohybrid cross but phenotypic
ratio is changed.

Multiple Allelism / Co-dominance:

When a gene exists in more than two allelic forms, it shows the phenomenon of multiple
allelism. A well known example is the inheritance of A, B and O blood groups in human being.
The gene for blood group occurs in three allelic forms IA, IB and i. A person carries any two of
these alleles. The gene IA produces glycoprotein (sugar) A and the blood group is A. The gene
IB produces glycoprotein B and the blood group is B. The gene ‘i’ is unable to produce any
glycoprotein and so the person homozygous for it, has O group blood. The genes IA and IB are
dominant over ‘i’. When IA and IB are present together, both are equally dominant and
produce glycoproteins A and B and the blood group is AB. They are called co-dominant alleles.

Phenotypic (Blood group) Genotype

A IAIA / IA IO
B IBIB / IB IO
AB IAIB
O IOIO (ii)

Dihybrid cross
Mendel also worked with two characters on pea plant. He chose color and shape of the
seed to explain the inheritance of two genes.

Phenotypic Ratio:

Round yellow: round green: wrinkled yellow: wrinkled green

9 : 3 : 3 : 1
Law of Independent assortment:
The law of independent assortment states that when inheritance of two or more genes occurs
at one time, their distribution in the gametes and in the progeny of subsequent generations is
independent of each other. To prove this, he did a dihybrid cross. He crossed homozygous
dominant smooth and yellow seeded (YYRR) with homozygous recessive wrinkled and green
seeded (yyrr) plants. The F1 hybrid was self pollinated and F2 generation was obtained with the
phenotypic ratio of 9:3:3:1 and genotypic ratio of 1:2:1:2:4:2:1:2:1.

Chromosomal Theory of Inheritance

On the rediscovery of Mendelian principles in 1900, the research on hereditary units started
and soon led to the “chromosome theory of inheritance”.

W.S. Sutton and T. Boveri proposed the “chromosomal theory of inheritance” in 1902 and
confirmed by T.H. Morgan in 1933. These two workers observed a closed similarity between the
transmission of hereditary traits and behaviour of chromosomes while passing from one
generation to the next through male and female gametes. According to this theory
“chromosomes are the carriers of hereditary information, possess mendelian factors (genes),
segregate and assort independently during transmission from one generation to the next”.

In other words, chromosomes are the physical basis of heredity because they have a special
organization, individuality, functions and capable of self duplication. They play a vital role in
heredity, mutation, variation and evolutionary development of the species.

Mendel Sutton and Boveri

Factors are in pair (Alleles) Chromosome which have these genes or

Factors are in pair(homologous

chromosome)
Factors separate at the time of gamete Chromosome of the homologous pair
formation separate during gamete formation

Allele or factor are assort independently Chromosomes assort themselves

independently

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