CHAPTER 5

PRINCIPLES OF INHERITANCE & VARIATIONS

PRESENTED BY,
VINU M
DEPARTMENT OF BIOLOGY
SCPUC
Genetics is a branch of biology that deals with the study of inheritance
and variation of characters from parents to offspring. The term
genetics was coined by Bateson.
Inheritance or heredity is the process by characters are passed on or
transferred from parent to progeny or offspring.
Variation is the degree by which progeny differ from their parents or it
is the differences among the offspring compared to their parents.
Much earlier to the discovery of principles underlying the exact
mechanism of inheritance, humans knew that one of the causes of
variation was hidden in sexual reproduction. They exploited the
variations naturally found in the wild populations of plants and
animals to selectively breed and select for organisms that possessed
desirable characters. For example, through artificial selection and
domestication from ancestral wild cows, we have well-known Indian
breeds like Sahiwal cows in Punjab known for high milk yield.
In the middle of 19th century, first successful attempt to discover the
basic principles of genetics was put forward by an Austrian monk,
Johann Gregor Mendel. He conducted hybridization experiments on
the garden pea plant Pisum sativum.
J. G. Mendel was born in a poor family of agriculturists. He was
admitted to church of Brunn and later he became priest in the church.
He was deputed to the University of Vienna to study natural science
and mathematics. After returning to Brunn, he conducted several
hybridization experiments on garden pea plants for 7 years (1856-
1863) and proposed the laws of inheritance in living organisms to
explain the mechanism of inheritance which is universally accepted.
Because of his significant contribution to the field of Genetics, he is
regarded as the ‘FATHER OF GENETICS’.
Hybridization is the process of crossing 2 plants or animals which are
differ genetically belonging to the same species.
Mendel selected pea plants for his experiments because of the
following reasons:
1. Pea plants can be easily cultivated even in a small place like garden.
2. Pea plants are true breeding plants or pure line breeders that have
undergone continuous self pollination for several generations that
shows stable trait inheritance and expression of characters.
3. They produce large bisexual flowers, which do not undergo natural
cross pollination.
4. It is easy to artificially cross breed these plants.
5. The duration of a generation is reasonably short and produce a
large number of offsprings. This helps to examine many
generations in a short duration and bring about analysis of
inheritance pattern.
6. They possess contrasting traits like tall and dwarf plants with
reference to height.
REASONS FOR MENDEL’S SUCCESS:
Mendel’s approach to his hybridization experiments was the main
reason for his success. The other reasons are
• He studied inheritance of one pair of characters in his earlier
experiments instead of considering all 7 pairs of traits at a time.
• He applied statistical analysis and mathematical logic to the data
collected during the experiments.
• Generalizations were made after confirming the identical results on
large sampling size.
• Mendel investigated characters in the garden pea plant that were
manifested as two opposing traits, e.g., tall or dwarf plants, yellow
or green seeds etc., This allowed him to set up a basic framework of
rules governing inheritance.
Mendel published his work on pea plants in the year 1865. Surprisingly
his work was not appreciated by the scientists of his time.
Mendel selected 14 true-breeding pea plant varieties categorized into
7 pairs depending upon the contrasting characters or traits they
possessed.
STEPS INVOLVED IN HYBRIDIZATION OR ARTIFICIAL CROSS POLLINATION
• Selection of a true breeding pea plant with the desirable character.
• Emasculation which involves the removal of anthers or stamens in
the bud condition where the flower acts as a functional female
flower.
• Dusting of pollen grains on the stigma or carpel of the functional
female flowers with the help of a brush.
• Covering the flower with a polythene bag to prevent further cross
pollination by external agents. This process is called bagging.
• Pollinated carpel will mature into a pod.
• Mendel collected seeds from the pod produced as a result of this
cross and grew them to generate plants of the first hybrid
generation. This generation is called First Filial generation or F1
hybrid or progeny or offspring.
 INHERITANCE OF ONE GENE OR MONOHYBRID CROSS
A cross performed between two pure breeding pea plants which differ
in a single genetic character is called a Monohybrid cross. The pattern of
inheritance is called inheritance of one gene or monohybrid inheritance.
A hybrid obtained by crossing parents that differ in a single character or
a hybrid with reference to one pair of contrasting characters is called a
Monohybrid.
Mendel took height has a single character and crossed tall and dwarf
pea plants to study the inheritance of one gene. He denoted the parent
plants as P1. He collected the seeds produced as a result of this artificial
cross pollination and grew them to generated plants of the First Filial
Generation or F1 progeny. Mendel observed that all the F1 progeny
plants were tall like one of its parents and none were dwarf. Mendel
then self-pollinated the tall F1 plants and to his surprise found that in
the second Filial generation or F2 progeny, some of the offspring were
dwarf and the character that was not seen in the F1 generation was
now expressed. The proportion of plants that were tall were ¾ th of
the F2 plants while ¼ th of the F2 plants were dwarf. Therefore the
proportion of tall and dwarf plants were in the ratio of 3:1 respectively.
The tall and dwarf traits were identical to their parental type and did
not show any blending i.e., all the offspring were either tall or dwarf
and none were intermediate in height.
He made similar observations for the other pairs of traits and found
that only one of the parental traits were expressed in the F1
generation while in the F2 generation both the traits were expressed in
the proportion 3:1. The contrasting traits did not show blending at
either F1 or F2 stage.
Based on the observations of Monohybrid cross, Mendel proposed that
something was being stably passed down, unchanged, from parent to
offspring through the gametes over successive generations termed ‘factors’
which is now replaced by the term genes. Factors or genes, therefore, are the
units of inheritance that contain the information required to express a
particular trait in an organism. Each factor is represented by alphabetical
symbols.
Factors or genes which code for a pair of contrasting traits are called alleles.
For eg., ‘T’ is used for tall and ‘t’ for the dwarf and T and t are alleles of each
other. Hence, in plants the pair of alleles for height would be TT, Tt or tt.
Homozygous plants are the plants which have similar or identical allelic pair
of genes. For eg., TT for tallness and tt for dwarfness. They produce always
only one type of gametes.
Heterozygous plants are the plants which have dissimilar or non-identical
allelic pair of genes. For eg., Tt in the F1 hybrid for tallness. They produce
two types of gametes.
Mendel proposed that in a pair of dissimilar factors, the trait which
expresses itself in the F1 generation is called dominant factor or trait. For
eg., it is represented by capital letter ‘T’ for tallness is dominant over t .
The trait which is unable to express in the F1 generation in presence of a
dominant factor is called recessive factor or trait. For eg., it is represented
by a small letter ‘t’ for dwarfness.
Mendel gave us the concept of phenotype which is the external
observable character of a plant or external appearance of an organism.
For eg., the descriptive terms tall and dwarf are the phenotype.
Genotype is the genetic constitution or the sum total of genetic make
up of an organism. For eg., TT, Tt and tt are the genotype of the plant
with reference to tallness and dwarfness.
 Punnett Square or checker board
It is a graphical representation to calculate the probability of all
possible genotypes of offspring in a genetic cross developed by
British geneticist, Reginald. C. Punnett. The possible gametes are
written on 2 sides. Usually the top row and left columns. All possible
combinations are represented in boxes below in the squares, which
generates a square output form. The symbols o+ and o-> are used to
denote the female and male of the F1 generation.
From the Punnett square it is easily seen that 1/4th of the random
fertilizations lead to TT, ½ lead to Tt and 1/4th to tt. This leads to a
phenotypic ratio of 3:1 and a genotypic ratio of 1:2:1.
The ¼ : ½ : ¼ ratio of TT: Tt: tt is mathematically condensable to the
binomial expression(ax+by)2, that has the gametes bearing genes T or t
in equal frequency of ½ . The expression is expanded as
(1/2T+1/2t)2 = (1/2T+1/2t) X (1/2T+1/2t) =1/4TT+1/2Tt+1/4tt
Based on the observations on Inheritance of one Gene, Mendel
generalized the principles of inheritance.
1. A character is controlled by a pair of discrete units called factors. This
is also known as Principle of unit characters.
2. Law of Dominance which states that in a cross involving a pair of
contrasting characters, only one of the traits appear in the F1
generation. This trait is called a dominant trait. The other trait which
does not appear in the presence of a dominant trait is known as a
recessive trait.
3. Law of Segregation: This law states that “in a cross, involving a
single character, the factors responsible for the two contrasting
traits stay together in the F1 generation but segregate or separate
during the formation of gametes”. According to this law, a gamete
carries either the factor for tallness or the factor for dwarfness, but
not both. The gamete is said to be pure for the trait it carries.
Hence this law is also known as the Law of purity of Gametes.
To determine the unknown genotypes in F1 progeny, Mendel crossed
F1 progeny with its recessive parent(dwarf plant). Such a cross is called
test cross where he observed equal number of tall and dwarf plants in
the offspring with the ratio 1:1.
Significance of test cross:
• To determine the genotype of the test organism.
• To determine whether an organism is homozygous or heterozygous
for a given trait.