Mutation

It is defined as the sudden and heritable change in the genetic information of

organisms. It makes the changes in structure, arrangement or quality of DNA of
the chromosome. It occurs randomly and spontaneously, and can result in a
marked difference in the characteristics of an organism. It was studied by Hugo
de Vries (1901). Mutation produces different types of effects such as lethal,
deleterious, advantageous, neutral, visible or invisible.
Characteristics of mutation
• Mutations may occur at any stage in the development of organism
• Mutations may take place either in somatic cells or in the germinal tissue
• Mutations may arise spontaneously in nature or may be induced artificially
• Mutations may be harmful or useful
• Mutations occur in all living organisms

A mutation is a change in phenotype, which is sudden, heritable and is not

produced due to segregation or recombination 1
• They are rare i.e. mutations occur at very low frequencies in nature
• Mutations may be large or small
• They may affect the structure and functioning of an organism
• They are usually recessive and very few mutations are dominant
• They are usually lethal in their action but may be beneficial or at least not
harmful
• Most mutation have harmful effects, but some are beneficial
• Mutations are recurrent i.e. the same mutation may be expected to occur
in different individuals of a given generation or those belonging to
different generations
• Some genes show exceptionally high rates of spontaneous mutations and
are known as mutable genes
• Many agents, both physical and chemical, increase the frequency of
mutations by several fold known as mutagens

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Types of mutation
1. Based on type of cell affected
a. Germinal mutation – These mutations occur in gametes or germ cells.
They are heritable and therefore, of great genetic significance.
b. Somatic mutation – These mutations occur in the somatic cells but do
not have any genetic or evolutionary role.
2. Based on method
a. Spontaneous mutation – These mutations occur naturally and
automatically due to internal factors.
b. Somatic mutation – These mutations are produced by external
factors. These may be chemical or physical agents called mutagenes
like mustard gas, nitrous acid, hydroxyl amine, hydrazine, X-ray etc.
3. Based on position
a. Gene mutation – These mutations occur in the gene. It causes change
in the sequence of the nitrogenous bases of a gene which causes
change in the phenotype of the organism.
b. Chromosomal mutation – These mutations occur in the chromosomes
due to which the structure and no. of chromosomes are changed. 3
Gene mutation or point mutation (Micro mutation)
Any chemical changes that affects the nature of gene at its molecular level is
called gene gene mutation or point mutation or micro mutation. Such mutation
may alter the sequency of nucleotides (A, T, G &C) within a part of DNA
molecule and changes the character of phenotype.
Types of gene mutation
These mutations occur in structure of gene or changes the sequence of
nucleotieds and may be –
1. Deletion – Removal of one or more nitrogenous bases from the segment
of DNA is called deletion. It results the loss of single or more nitrogenous
bases from the chain of nucleotide.
2. Insertion or addition – Addition of one or more nitrogenous bases into the
segment of DNA is called insertion.
3. Substitution – The replacement of one nitrogenous base by another type
is known as substitution and may be –

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 a. Transition – When a purine base (A or G) is substituted by another
purine base and a pyrimidine base (T or C) is substituted by another
pyrimidine base is called transition.
b. Transversion – Substitution of a purine base with a pyrimidine base or
vice versa is known as transversion.
Frame shift mutation
Any disturbance in the sequence of nucleotide changes the entire message in
the reading frame thus leading to the changes in sequence of amino acid. This
type of mutation is known as frame shift mutation.
Chromosomal mutation or macro mutation or aberration
The genes are arranged on the chromosome in a definite order. Sometimes due
to mutation, structure of chromosome may change which affect the
phenotypic characters of organisms. the change in the structure and no. of
chromosome is called chromosomal mutation and may be –
I. Due to change in the structure of chromosome
In this type of mutation the morphology of chromosome changes due to 5
1. Intrachromosomal aberration
The aberration that occur within a single chromosome are known as
intrachromosomal aberration and may be
a. Deletion or deficiency – It is the loss of a piece of chromosome. It involves
a break of a piece of chromosome but do not reattach, the piece lay be
lost. It may be terminal or intercalary.
ABCDE.FGH ABCE.FGH
b. Inversion – It occurs when a part of chromosome is detached, turns
around through 1800C and is reinserted in such a way that the sequence of
gene get in reverse order.
ABCDE.FGH ABCF.EGH
2. Interchromosomal aberration
The aberrations that occur in two chromosomes simultaneously are known as
intrachromosomal aberration and may be
a. Duplication – It represents addition of chromosome parts. A piece of a
chromosome duplications so that a set of genes repeated.
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 ABCDE.FGH ABE.FGH
MNOPQ.RST MNOCDPQ.RST
b. Translocation – it involves the shifting of a segment of one chromosome
to another non-homologous chromosome. Thus, both the chromosomes
are affected.
• Simple translocation – it involves the exchange of parts between the
two non-homologous chromosomes
• Reciprocal translocation – it involves mutual exchange of segments
between two non-homologous chromosomes.
ABCDE.FGH ABOPE.FGH
MNOPQ.RST MNCDQ.RST
II. Due to change in the chromosome number
Due to chromosomal mutation, numerical changes in chromosomes or a
variation in chromosome no. occurs known as ploidy. It may be –
1. Aneuploidy – The change in the chromosome no. either due to addition
or deletion of one or more chromosome is known as aneuploidy. It is due
to failure of separation of homologous chromosomes during meiosis. 7
 a. Monosomics – It is the result of loss of single chromosome from
diploid set & is represented by 2n-1. It results in reduced fertility and
high mortality.
b. Nullisomics – It is the result of loss of a pair of chromosome from
diploid set. In this case, a diploid organism lacks one pair of
homologous chromosome. It is represented by 2n-2. It reduces virous,
fertility and life span.
c. Polysomics – It is the addition of one or more chromosomes. These
arise by the fusion of gametes with n+1 and n+1.
d. Monosomitrisomic – It is the addition of one single chromosome
along with loss of one another chromosome.
2. Euploidy
Euploides include addition or loss of complete one set or more than one set of
chromosome from a diploid set so that the resulting offsprings have just one
set of chromosome. In euploidy there is duplication of same haploid set.
a. Monoploidy – It involves loss of complete one set of chromosome from a
diploid set so that the resulting offsprings have just one set of
chromosome. 8
b. Polyploids – It involves the addition of one or more sets of chromosome
in a organism as –
• Tetraploidy – organisms with 4 sets of chromosome
• Pentaploidy – organisms with 5 sets of chromosome
• hexaploidy – organisms with 6 sets of chromosome
Polyploidy
Usually the organisms possess two sets of chromosomes called as diploid but
sometimes no. of set of chromosome may increase by addition of
chromosome. The addition of one or more complete sets of chromosomes or
genome is known as polyploidy. It may arise as a result of abnormal mitosis.
Types of polyploidy
1. Autoploidy - It is a condition in which more than two sets of same
genome are present. Autoploids are those polyploids, which are derived
from the multiplication of same basic set of chromosome. For instance, if
a diploid species has two similar sets of chromosome (AA) an
autotetraploid will have four such genomes (AAAA). 9
 Somatic Somatic chromosome
Ploidy
formula (A1A1 A2A2 A3A3)

Nullisomic 2n-2 A1A1 A2A2

Monosomic 2n-1 A1A1 A2A2 A3

Aneuploids Double monosomic 2n-1-1 A1A1 A2 A3

Trisomic 2n+1 A1A1 A2A2 A3A3A3

Monosomictrisomic 2n-1+1 A1A1 A2 A3A3A3

A1 A2 A3
Monoploid (X)
A1A1 A2A2 A3A3
Autopolyploids Diploid (2X)
Euploids A1A1A1 A2A2A2
Triploid (3X)
A3A3A3
Triploid PQR
Allopolyploids
Tetraploid PQRS
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2. Alloploidy – It is a condition, which develops through hybridization
between two species followed by doubling of chromosomes. Alloploids
may result the doubling chromosome no. in a F1 hybrid which is derived
from two distinctly different species. Suppose A represents a set of
chromosome in species X and B represents another set of chromosome in
species Y then F1 will have genome AB.
Significance of mutations
• high yielding varieties of economic plants have been developed
• mutations induce plants with shorter life cycle without affecting yield
• many domisticated animals have been originated by mutation form wild
varieties
• mutant varieties of microorganism have been developed and isolated
• valuable application of induced mutations is the increased microorganism
and thus medicine
• mutation provides raw material for evolution

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