TYPES OF
MUTATIONS
BY:
PUSHPENDRA KAUSHIK
B.D.S. Ist year
MUTATION
Mutation is sudden, inheritable, discontinous
variation due to change in chromosomes
and genes. Hugo de Vries (1901) one of
the discoverers of Mendel’s Laws, observed
two different varities of Oenothera
lamarkiana (Evening primrose). These
differed in length of stem, flower form and
colour and shape of leaves.
Seth Wright (1791) is considered
to be the first to record POINT or
GENE MUTATION.
Darwin called these variations
as SPORTS.
Bateson called them as
DISCONTINOUS or SALTATORY
VARIATIONS.
The credit for scientific study of
mutation goes to Thomas Hunt
Morgan(1910).
TYPES OF MUTATIONS
1. Gene Mutation: It is alteration in the sequence
of nucleotide in nucleic acids or any change in
sequence of triplet bases. If gene mutation arise
due to change in single base pair of DNA, it is
called POINT MUTATION. Gene mutation occurs
by following methods:
(a) Frame Shift mutation (Gibberish
mutation)
(i) Deletion: Removal of one or more bases
from nucleotide chain.
(ii) Insertion or addition: Addition of one or
more bases in a nucleotide chain.
(b) Substitution
(i) Transition: When a purine base is
substituted by another purine or a pyrimidine
base by a pyrimidine .
NON-SENSE Mutation: when a normal codon,
coding for an amino acid is changed into a chain
terminating codon(UAA, UAG, UGA)resulting in
production of an incomplete polypeptide.
MIS-SENSE Mutation: change in base in a codon,
producing a different amino acid at the specific site
in polypeptide, e.g., sickle cell anaemia.
2. Chromosomal Mutations: The change in
chromosome morphology is called chromosomal
aberration.There are four types of chromosomal
rearrangements:
(a) Deletion: Loss of a terminal segment of
chromosome, e.g., Cri-du-Chat syndrome(short
arm of chromosome 5 loses a part).
(b) Duplication: Occurs due to addition of a
part of chromosome so that the set of genes is
(c) Translocation; It involves shifting of a part of one
chromosome to another non-homologous chromosome.
So new recombinant chromosomes are formed. e.g.,
Chronic myelogenous lukemia(CML) occurs due to
translocation of a segment of long arm of chromosome
22 to chromosome 9.
(d) Inversion: Change in linear order of genes by
rotation of a section of chromosome by 180
degrees.It is of two types:
(i)Paracentric: Inversion without involving
centromere.
(ii)Pericentric: Inversion involving centromere.
3. GENOMATIC MUTATION or numerical changes in
chromosome number: It is of two types:
(A) Aneuploidy: Any change in number of
chromosomes in an organism would be different from
multiple of basic set of basic set of chromosomes.
There would be the following two possiblities:
(a)HYPOPOIDY : This arises due to loss of one or
more chromosomes or pair/s of chromosome. Thus,
the following conditions may arise:
(i) MONOSOMY(2n-1): It is the result of loss of one
chromosome for a homologous pair.
(ii) NULLISOMY (2n-2): It is the result of loss of a
complete homologous pair of chromosomes.
(b) HPERPOLYPLOIY: This arises due to addition of
one or more chromosome. The following conditions
may arise:
(i) TRISOMY(2n+1): A single chromosome is added
to the chromosome set. First trisomic is Datura
stramonium made by A.F. Blakeslee (1924).
Examples in humans are Down’s Syndrome,
Edwards Syndrome and Patau syndrome.
(ii) TETRASOMY(2n+2): It is the result of addition of
complete homologous pair of chromosomes.
(B) Euploidy: Any change in the number of chromosomes
is the multiple of number of chromosomes in a basic set.
This may be:
(a) HAPLOIDY: One set of chromosomes. Haploids are
better for mutation experimental studies because any
mutation either dominant or recessive can express
immediately because there is only one set of
chromosomes in a cell to express.
(b) POLYPLOIDY: Increase in the whole set of chromosomes
in an organism. They fall into two major categories:
(i) AUTOPOLYPLOIDS have same basic set of
chromosomes multiplied more that twice, e.g., AAA-
autotriploid, AAAA- autotetraploid. Autopolyploids with
odd number of chromosomes are seedless but show
gigantism.
Naturally occuring autotriploids are- banana, grapes
sugarbeet, tomato and watermelons.
Similarly, autotetraploids are apple, barseem ,corn,
(ii) ALLOPOLYPLOIDS are hybrids whose chromosome
sets are derived from two different genomes.
let A and B be considered as different genomes. The two
diploid organisms should have AA and BB chromosome
sets. The autotetraploid can now be represented as AAAA
while allotetraploid is represented as AABB.
The commonest example of allopolyploidy is
Raphanobrassica developed by G.D.Karpechenko (1927).
Raphanus sativus * Brassica oleracea
AA(2n = 18) BB(2n = 18)
9 Bivalents 9 Bivalents
F1 hybrid
AB(9A:9B)
18Univalents
Colchicine
Raphanobrassica
AABB(18A: 18B)
THANK
YOU
