Presented by:

Dhiraj Chhetri Kunwar

Botany Lecturer
Kalika Manavgyan Secondary School
Kalikanagar-12, Butwal
Mutation
The term mutation was given by Hugo de
Vries in 1901. It is defined as the sudden and heritable
change in genetic material. The mutation which
occurs by themselves in the nature Spontaneous
mutation and the mutation which caused artificial in
the living organism is called Induced mutation. The
mutation causing factors are called Mutagens.
A tulip flower exhibiting a partially yellow petal due to a mutation
in its genes
Bollywood star Hrithik Roshan have six finger in
one hand due to mutation
Mutagens
 The mutation causing factors are called mutagens.
 The mutagens may be physical or chemical or
biological.
 The some physical mutagens are high temperature,
X-rays, UV- rays, γ- rays etc.
 Likewise the chemical mutagens are Nitrous acid,
Hydroxyl amine, Mustard gas, Hydrazine, Colchicine
etc.
 The biological mutagens are mutator genes, infectious
bacteria and viruses.
Mutagens
 Types of
mutation

Chromosomal Genomatic
Gene mutation
mutation mutation

Inter- Intra-
Frameshift Substitution
chromosomal chromosomal Aneuploidy Euploidy
mutation mutation
mutation mutation

Addition Translation Deletion Monosomics Monoploidy Polyploidy

mutation mutation mutation (2n-1) (2n-n) (2n+n)

Deletion Transistion Duplication Nullisomics

Autoployploidy
mutation mutation mutation (2n-2)

Inversion Trisomics
Allopolyploidy
mutation (2n+1)

Tetrasomics
(2n+2)
Types of Mutation
On the basis of origin:
i. Gene mutation
ii. Chromosomal mutation
iii. Genomatic mutation
1. Gene mutation:
Any chemical change that affect the nature of gene and
its molecular level is called gene mutation. It occurs just one or
two nitrogen bases in DNA or RNA molecule. Therefore it is also
called Point mutation. It is further divided into three types:
a) Frame shift mutation
b) Substitution mutation
c) Non-sense mutation
a. Frame-shift mutation
The mutation caused by the addition or deletion of
nitrogenous bases in the DNA or RNA is known as frame
shift mutation. It is further divided into 2 types:
i. Addition mutation:
The mutation caused by addition of nitrogen bases in
the DNA or RNA is known as Addition mutation.
A
For e.g. AUG CCU AGU AUG ACC UAG…
i. Deletion mutation:
Mutation caused by the loss of nitrogen base from
the segment DNA or RNA is called Deletion mutation.

For e.g. AUG CCA GAC AUG CAG…..

b. Substitution mutation
A point mutation in which a nitrogen base is
replaced by another nitrogen base is called substitution
mutation.
i. Transition mutation: In this mutation a purine is
replaced by another purine or a pyrimidine replaced
by another pyrimidine. (A G or T C)
ii. Transversion mutation: In transversion, purine is
replaced by pyrimidine and vice versa. (A T or
G C)
c. Non-sense mutation:
It occurs due to conversion of sense codon into
nonsense codon which stops polypeptide synthesis.
Like, UAC UAA
UAU UAG
CGA UGA
2. Chromosomal mutation/
chromosomal aberrations
The mutation which is caused by the change in structure of
chromosome is called chromosomal mutation. It is divided into
two types:
a. Intra-chromosomal mutation
b. Inter-chromosomal mutation.
- Intra- Chromosomal mutation
Mutation that occurs due to the change in the structure
of the single chromosome is called intra-chromosomal
mutation. It is of three types:
i. Defiency / Deletion mutation
ii. Duplication mutation
iii. Inversion mutation
i. Defiency / delation
Mutation caused by the loss of part of chromosome
is called defiency mutation.
For e.g. ABCDE ABCD here E is deleted.
ii. Duplication
Sometime a segment of chromosome gets repeated
in the same chromosome is called duplication mutation.
For e.g. ABCDE ABBCDE here B is repeated
iii. Inversion
Sometimes, a segment of chromosome become
inverted is called inversion.
For e.g. ABCDE ABDCE here C&D are inverted.
- Inter-chromosomal mutation
The mutation caused by the exchange of
chromosomal segment is called inter chromosomal
mutation.
For e.g. ABCDE ABCPQ
MNOPQ MNODE
(here DE are exchanged with PQ)
Fig: Chromosomal aberrations
3. Genomatic mutation
The mutation caused by change in number of chromosome
is known as genomatic mutation. It is divided into two types:
a. Aneuploidy
b. Euploidy
- Aneuploidy
The addition or loss of one or more chromosome from
the complete set of chromosome is called Aneuploidy. It is
further divided into four types:
i. Mono-somics (2n-1)
ii. Nulli-somics (2n-2)
iii. Tri-somics (2n+1)
iv. Tetra- somics (2n+2)
i. Monosomics: Loss of one chromosome from the diploid
complete set is called monosomics. It is represented by
2n-1. In human, monosomy causes a disease called
Turners syndrome.
ii. Nullisomics: Loss of single pair of chromosome from a
diploid complete set is called nullisomics. It is
represented by 2n-2.
iii. Trisomics: Addition of one chromosome in the diploid
complete set is called trisomics. It is represented by 2n+1.
In human, trisomy causes a disease called klienfelters
syndrome.
iv. Tetrasomics: Addition of one pair of chromosome in the
diploid complete set is called tetrasomics. It is
represented by 2n+2.
Euploidy
The mutation caused by addition or loss of one or more
set of chromosome in the diploid organisms is known as
Euploidy. It is further divided into two types:
i. Monoploidy
The mutation caused by the loss of one set of
chromosome from the diploid set of chromosome is known
as Monoploidy i.e. 2n-n.
ii. Polyploidy
It is the mutation caused by addition of one or more set
of chromosome in diploid cell i.e. 2n+n, 2n+2n. It is divided
into two types:
- Auto-polyploidy
- Allo-polyploidy
Autopolyploidy:
It is a condition in which more than two sets of genome are present.
Autoploids are defined as an individual with more than two identical
genome. Autoploids may have three (autotriploid AAA), four
(autotetraploid AAAA), five (pentaploid AAAAA) or more copies of
same genome. Autoploids are more fertile, vigour and large sized.
Grapes, tomato, strawberry etc. are autoploid races.
Allopolyploidy (Alloploidy):
It is a condition, which develops through hybridization between
two species followed by doubling of chromosomes. The individual
produced are allopolyploids. The species X has the gamete ‘A’ and
the species Y has the gamete ‘B’ which gets fertilizes and F1
hybrid is produced as a diploid individual AB. The doubling of
chromosome of F1 hybrid will give rise to a tetraploid.
Parents X- species Y- species
AA BB
Gametes A B

AB ----- F1 hybrid
Doubling of chromosome bytreating with colchicine

AABB (fertile tetraploid) F2 hybrid

Some examples of Allopolyploidy
1) Raphanobrassica- The Russian geneticist Karpechnko
made a cross between Raphanus sativus and Brassica oleraceae.
He got sterile F1 hybrid. Among sterile hybrids, he got certain
fertile plants having double the chromosome number.
Application/ significance of Mutation:
1. In agriculture
- High yielding varieties of barley, gram, ground nut, etc. have
been produced by mutation.
- Seedless fruits such as grapes, banana, orange etc. have been
developed by mutation.
- Mutation induce plants with shorter life cycle without
affecting yield.
- Alloploidy has produced very important crops like wheat and
rice that are high yielding.
- In wheat several useful mutants namely lodging resistance,
high protein are obtained and utilized in plant breeding.
2. In animal husbandry
- Many domestic animals have been originated by mutation
from wild varieties. These include hornless cattle, hairless
cats etc.
- Mutations have enabled in increase in yield of milk, meat
and wool in animals.
3. In micro-organisms
- Many new strains of micro-organisms have been
developed through mutations for better yield, antibiotics
and quicker fermentation.
- Mutant varieties of microorganisms have been developed.
These are isolated and used in various industries.
4. In evolution
Mutation provide raw material for evolution. Most
of the mutations are harmful and are lost with the death of
organisms. A few other mutations are recessive and can be
expressed only when in homozygous condition.