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  Chromosomal Aberrations

Introduction to Chromosomal Aberrations

In an organism, any observable defect in chromosome number / structure from the diploid set is termed as chromosomal aberration. The chromosomal aberrations relies on the structure of the chromosome are of 4 types. They are as follow:

1. Deletion,

2. Duplication,

3. Inversion and

4. Transversion.

Structural chromosomal aberrations

Deletion

The lost of a segment of the genetic material in a chromosome is known as deletion.  It might be terminal / intercalary. While the deletion takes place near the end of the chromosome, after that it is termed as terminal deletion. Examples are Drosophila and Maize.  While the deletion takes place in the middle of the chromosome then, it is known as intercalary deletion.  Several deletions lead to death of an organism.

Duplication

While a segment of a chromosome is exist in more than once in a chromosome then, it is known as duplication.  For instance, the order of genes in a chromosome is a, b, c, d, e, f, g and h. Because of aberration, the genes 'g' and 'h' are duplicated and the sequence of genes becomes a, b, c, d,  e, f,  g,  h,  g and h. In Drosophila, corn and peas a no. of duplications are reported.  A number of duplications are helpful in the evolution of the organism.

Inversion

Inversion is other chromosomal abnormality where, the order of genes in a chromosomal segment is reversed through an angle of 180°.  For instance, the order of genes in a chromosome is a, b, c, d, e, f, g and h. Because of aberration, the sequence of genes becomes, a,  b,  c, d,  g, f, e and h.

There are two kinds of inversion. They are as follow:

1. pericentric and

2. paracentric inversion.

The inverted segment of the chromosome consists of centromere in pericentric inversion.   Occasionally, it is accountable for evolution of the organism. For instance the 17th human chromosome is acrocentric, when in Chimpanzee the corresponding  chromosome is metacentric. In paracentric inversion, the inverted segment of the chromosome comprises no centromere.

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Diagram:  Chromosomal aberrations

Translocation

Translocation is a type of a chromosomal abnormality where the interchange of the chromosomal segments takes place. While translocation takes place among two non-homologous chromosomes, after that it is known as reciprocal translocation or  illegitimate  crossingover. It is of two types. They are as follow: -

1. heterozygous translocation and

2. homozygous translocation.

In heterozygous translocation, one member of every pair of chromosomes is normal and another member is along with interchanged segment. But in homozygous translocation, both of the members of paired chromosomes comprise translocated segments.

They play a significant role in species separation. Translocations is reason of hereditary disorders.

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