Revision Notes

Class 12 - Biology
Chapter 5 - Principles Of Inheritance And Variation

What is heredity?
Heredity is the condition when the genes are transferred from one generation to the
other through sexual reproduction. Various genes and many inheritable characters
are passed on so that the offspring produced are better adapted to the new changing
conditions. The characteristics are present in the form of genes on the chromosomes.
“The father of genetics” is Gregor Johann Mendel. He proposed 3 main laws of
inheritance which are known as Mendel’s laws.

Mendel’s Experiment
Gregor Mendel, after performing his experiments on pea plants, discovered the
fundamental laws of inheritance. He proposed three laws of inheritance which we
are studying to date. He has chosen pea plants having seven opposite traits of
particular characters and conducted his experiment on 14 true-breeding pea plant
varieties.

Fig.1. Seven contrasting characters selected by Mendel

Mendel’s laws
There were 3 laws that were proposed by Mendel

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1. Law of dominance: It is explained in this law that all of the traits, or the characters
are controlled by the unit called the factors. These factors are found t be in pairs and
are called alleles. If they occur in the same pair they are called homozygous, they
can be either dominant or recessive and if the alleles occur in a different pair then it
is called heterozygous, It will always be dominant.
“For example Allele for tallness is dominant over the allele for dwarfism”.

2. Law of segregation of genes: Law of segregation is based on the fact that alleles
do not show any blending and that both the characters are recovered as such in the
second filial generation though one of these is not seen in the first generation. The
segregation of factors or a pair of alleles occurs in such a manner that the gamete
receives only one of the two factors from each other.

Fig.2. Examples of the law of segregation of alleles. In this R is dominanat over r.

3. Law of independent assortment: It states that pairs of traits in the parental

generation sort independently from one another when passing from one generation
to the next. It is explained with the help of a dihybrid cross.

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Inheritance of one gene
The inheritance of one gene using Mendel’s law can be explained with the help of a
monohybrid cross. In this experiment, the cross between tall and dwarf plants is done
which will result in all tall hybrid plants in the F1 (First Filial or First) generation.
Then these progenies are self-pollinated and will result in the production of F2
generation where three tall plants and one dwarf plant will be formed. Thus, the ratio
will be 3:1.

Incomplete dominance
Incomplete dominance is a type of inheritance in which one allele for a specific trait
is not completely dominant over the other allele i.e. neither allele is dominant over
the other in heterozygous organisms. This results in a combined phenotype.
Incomplete dominance is also called mosaic or partial dominance. Here new
phenotypic characters are expressed entirely.
Mirabilis jalapa, the marvel of Peru commonly called a 4 o'clock plant. It is a very
good example of incomplete dominance because of its Inheritance of flower color.
It is shown in the figure given below where red flowers (dominant) were crossed
with white flowers (recessive), the F1 generation contains flowers that are pink in
color (intermediate).

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The phenotypic and the genotypic ratio observed will be the same, that is 1:2:1.

Multiple Allelism or Codominance

The condition in which three or more alternative forms of alleles present for a single
gene on the same chromosome is known as Multiple Allelism and the alleles are
known as multiple alleles.
For example, Multiple allelism is better to understand with the help of the ABO
blood group system in humans. The inheritance of the ABO blood group is a gene I
(in which I represent isohemagglutinin) that remains in the 3 allelic expressions: IA,
IB, and i which are codominant in humans. An individual can possess any two of
these alleles. Gene IA is responsible for blood group A and codes for glycoprotein A
while gene IB is responsible for blood group B and codes for glycoprotein B.

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The gene ‘i’ does not produce any glycoprotein and so the person who will be having
these two alleles together in a homozygous condition will have O group blood. The
genes IA and IB are dominant over ‘i’ but alleles IA and IB are dominant equally and
produce both the glycoproteins A and B simultaneously and results in the blood
group AB. Such alleles are known as co-dominant alleles.

Inheritance of two genes

The inheritance of two genes requires two characters of the same trait. This can be
observed with the help of a dihybrid cross. Mendel has chosen two traits that involve
the color and the shape of the seed to explain the inheritance of two genes. Y
represents the dominant yellow color seed color, y represents a recessive green color
while R represents the round shape of the seed, and r represents the wrinkled shape
of the seed. The genotype of the parents can then be written as RRYY and rryy. The
gametes RY and ry will unite after fertilization and will produce the F1 hybrid RrYy.
The dihybrid cross is also useful in the study of the Law of Independent Assortment.
After the self-pollination of the F1 hybrid, the F2 ratio was found to be 9:3:3:1.

Chromosomal theory of inheritance

Chromosomal theory of inheritance was given by Walter Sutton in 1902. This theory
also explains the linear structure of chromosomes with genes in particular sites
which was mentioned as loci while Boveri also studied this theory separately. So,
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this theory is also known as the Boveri-Sutton chromosome theory. According to
this theory-
(i) Genes are found at specific locations on the chromosomes.
(ii) During meiosis the homologous chromosomes separate.
(iii) After fertilization the number of chromosomes becomes diploid.
(iv) Chromosomes segregate as well as assort independently.

Linkage and recombination

Different experiments were conducted by T.H. Morgan to understand the process of
linkage and recombination. He performed several dihybrid crosses in Drosophila
(fruit fly) to study genes that were sex-linked. For example, Morgan crossed the
yellow-bodied, White-eyed females to brown-bodied, red-eyed males and then self-
breed their F1 progeny that results in a slight variation from the 9:3:3:1 ratio in the
F2 generation because the two genes did not segregate independently of each other.
Thus, it signifies that the genes are linked. The genes show linkage physically and
this condition is called linkage.
Recombination is the condition where the genetic material is rearranged. For
example, crossing over is known as recombination. In this, the recombinants are
formed which results in variation. The recombinants are the progenies that are the
combination of both the parents.

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Sex determination
Sex determination is the process where the gender of the child can be revealed. Sex
chromosomes are responsible for the determination of the sex of a child. In the case
of humans, females have XX types of chromosomes while males have one X and
one Y type of chromosomes. Thus, when the egg (female gamete) formed will be
having identical X-chromosome each but male sperms (male gametes) are not
identical as they have one X-chromosome and one Y-chromosome. So it's a matter
of chance that which sperm fuses with the egg (X or Y). Thus, the females are said
to be homogametic (same type of chromosomes) while males are said to be
heterogametic (different types of chromosomes).
In the case of insects, the mechanism of sex determination is of XO type. Here the
eggs consist of the X chromosomes while the sperms may have one or none X
chromosomes. Thus, the males are said to be homogametic (same type of
chromosomes) while females are said to be heterogametic (different types of
chromosomes).

Mutation
The sudden changes in the sequence of DNA are known as mutations. The changes

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in the DNA may be heritable and will be passed onto the next generations affecting
both the genotype, as well as the phenotype of an individual. The different types of
mutation are frameshift mutations, insertions, deletions, duplications, substitutions,
etc. Mutations may be harmful or may not affect at all.
(i) The addition or deletion of DNA bases will lead to changes in the reading frame
called the Frameshift mutations.
(ii) The addition of DNA bases is known as insertions.
(iii) Removal of DNA bases is known as deletions.
(iv) If a piece of DNA is copied for more than one time is known as duplication.
Thus, these mutations will lead to a change in the DNA sequence resulting in the
formation of the wrong protein.

Genetic disorders
Pedigree analysis
The occurrence and appearance of certain phenotypes of a particular gene and
organism are represented by a Pedigree chart. It results in the presentation of the
family information with an easily readable chart.

Mendelian disorders
Genetic disorders are divided into two categories- Mendelian disorders and
chromosomal disorders. Mendelian disorders are those that are caused due to
mutation or alteration in a single gene. The most common examples of these diseases
are Hemophilia, Sickle-cell anemia, Cystic fibrosis, Color blindness, Thalassemia,
Phenylketonuria, etc. The Mendelian disorders are found to be either dominant or
recessive. The trait are also found to be linked to sex chromosomes called sex-linked
diseases, such as hemophilia and color blindness.

Chromosomal disorders
Chromosomal disorders are those that are caused due to addition or loss or abnormal
arrangement of one or more chromosomes. The addition or subtraction of
chromosomes depends upon the improper segregation of chromatids during the
process of the cell division cycle, this results in the condition called aneuploidy. For
example, In Down’s syndrome results there is an addition of an extra copy of
chromosome 21. Similarly, in the case of the Turner’s syndrome, there is a loss of
an X chromosome in the human females. The other condition is polyploidy where
the process of cytokinesis is absent after the telophase stage of cell division will lead
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to an increase in a whole set of chromosomes in an organism which is often seen
mostly in the case of the plants.

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