CHROMOSOMAL ABERRATIONS

INTRODUCTION
The cytological basis of variations is based on change in
chromosome, any change in the structure and number of
Chromosome is called as chromosomal aberration.
The chromosomes determine the characteristic of an individual
and it determines the mode of inheritances, it is the main
internal factor for variation.
The change in number and structure of chromosome changes
the arrangement of genes in chromosome. It produces
organism with new or different characteristics.
The following aberration can be of following types:1) Change in Structure of Chromosome
The structure of Chromosome changes due to change in
number of genes and change in arrangement of genes changes
due to following process.
a) Deficiency or Deletion
It involves the loss of one or more gene due to breakage of
Chromosome and loss of broken segment.
Depending upon the length of the lost segment, the genes lost
may vary from a single gene to a block containing several
genes.
Types of Deficiency or deletion
(i) Terminal Deletion
It refers to the loss of a segment from one or the other end of
the chromosome.
The terminal acentric part of the Chromosome is unable to
survive and causes terminal deletion.
The terminal deletion is, therefore, caused by a single break in
the Chromosome.
a
(ii)

b c d e f
(Deletion)
Interstitial Deletion

b c d
(Terminal)

 Interstitial deletion or intercalary deletion involves the loss of

an intercalary segment of the Chromosome with the reunion o
terminal segment and deletion occurs from the middle.

(Deletion)

(Interstitial)

b) Duplication
The presence of same block by genes more than once in a
haploid complement is known as duplication and the additional
block of genes is called a repeat.
The deleted portion from one chromosome might get attached
to the other Chromosome of the pair or may exist as an
acentric fragment of the Chromosome in the nucleus, thereby
adding to the normal chromosome complement.
Types of Duplication
Three types of duplications have been recognized on the basis of
attachment of Chromosome segment.
(i) Tandem Duplication
In tandem duplication the added segment has the same
genetic sequence as is present in the original state in the
Chromosome.
Moreover, the added segment lies in close association with the
original segment.
A

(Tandem Duplication)

(ii) Reverse Tandem Duplication

In such duplication the sequence of genes aligned in the
attached Chromosome piece is just the reverse of the original
alignment.

(Reverse Tandem
Duplication)

(iii) Displaced Duplication

In displaced duplication the

Chromosomal

segment

get

attached to some non homologous Chromosome, as for

example.

(Displaced Duplication)

Significance
Duplications are more frequent and less deleterious. These do
not lower the viability, but do produce abnormality of structure
and function.
Duplication play

significant

role

in

evolution,

because

duplication increases number of genes in the Chromosome

complement. These additional genes might get modified by
mutations.
Under these circumstances the lethal mutations might get
converted either into tolerable or beneficial ones.
The duplications may overcome the effect of deletion, thus
reducing their effect to nonlethal.
Translocation
Translocation is a kind of Chromosome rearrangement in which
a block of genes from one linkage group is transferred to
another linkage group.
Translocation occurs as a result of interchange of Chromosome
segments in non homologous Chromosome.
The phenomenon of translocation can be explained

by

supposing that the two Chromosomes having AB and CD

exchange segment and produce Chromosome AD and CB.

 Translocation is thus different from crossing over which

involves

interchange

between

homologous

parts

of

homologous Chromosome.
A
B
C
D
A

Types of Translocation
Depending upon which part or parts of non homologous
Chromosomes become detached and reunited the translocation
can be:i)
Simple Translocation
In such cases a small segment of a Chromosome is added to
the end of other non homologous Chromosomes.
This type of translocation is very rare in nature and is caused
by a single break in one Chromosome only.
ii)
Shift Translocation
In shift translocation an interstitial segment

of

one

Chromosome is broken off and is inserted within the break in

another non homologous Chromosome.
This it involves three breaks two in one Chromosome and one
in non homologous Chromosome.
iii) Reciprocal Translocation
It is the exchange of parts between

non

homologous

Chromosome.
These are most frequent and are produced by single break in
each of the two non homologous Chromosomes.
Reciprocal translocation is of two types:(a)

Homozygous Reciprocal

In this both the homologous Chromosome exchange parts with

the two homologue of another pair.
(b)

Heterozygous Reciprocal

In this only one member of each of the two homologous pairs

exchange part.

iv)

Multiple Translocation

In multiple translocations more than two pairs of non homologous

chromosome exchange parts.
Significance of translocation
(i)

Translocation may cause change in the morphology or

appearance of chromosome by centric fusion between two
acrocentric chromosome segments. This may lead to the

(ii)

change in the number of chromosome.

Translocations introduce genetic polymorphism

in

the

populations of a species and play a significant role in

formation of new varieties and new species.
c) Inversion
Sometimes the number of genes in a chromosome is changed
but the sequence of genes is altered by the rotation of gene
block with a chromosome by 1800.
If a chromosome having gene alignment a b c d e f g h i
breaks at point b and g and the middle segment c d e f
undergoes inversion, the gene sequence in the inverted
chromosome will be a b g f e d c h i.

Types of Inversion
Inversions are of two types:(i)

Paracentric Inversion

 When both the breaks in the chromosome during inversion

occur on the same side of the centromere, the inversion is
known as paracentric.
The inverted segment of chromosome is without centromere.
If paracentric inversion occurs singly, i.e., on one side of the
centromere or homobrachial.
On the other hand, when two paracentric inversions occurs one
on either side of the centromere, the inversion is known as
interradial or brachial inversion.
(ii) Pericentric Inversion
In pericentric inversion the inverted segment contains the
centromere, i.e. it involves one break on either side of the
centromere.
Significance of inversion
Inversions help in the origin of new species.
Inversions provide proof for the occurrence of crossing over
and support the view that only two of the four chromatids
crossover.
2) Change in number of chromosome.
The chromosome number changes in a few by a set.
When a few or one chromosome changes from the normal
diploid set than the condition is called as aneuploidy.
a) Aneuploidy
The loss of one chromosome from the diploid set is called as
Monosomic (2n-1).
The loss of a pair of chromosome is called as Nullisomic (2n-2).
The addition of one or more chromosome to the original set is
called as polysomic set.
b) Euploidy
The loss or addition of one complete set from the diploid set of
chromosome is called as euploidy.
The loss of one set of chromosome from the diploid set is called
as haploidy (2n-2).

 When 2 or more set of chromosome are added to the normal

diploid set than the condition is called as polyploidy, it may be
tiploid, tetraploid, Pentaploid.