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What is a mutation? Explain the two types of mutation.

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The mutation is an inheritable sudden change in the genetic material (DNA) of an organism. 

Mutations are broadly classified into 

1. Chromosomal mutation and 

2. Gene mutation.

1. Chromosomal Mutation: The sudden change in the structure or number of chromosomes is called chromosomal mutation. This result in 

(a) Change in the structure of chromosomes: Structural changes occur due to errors in cell division. Changes in the number and arrangement of genes take place as a result of deletion, duplication, inversion and translocation in chromosomes.

(b) Changes in the number of chromosomes: They involve addition or deletion in the number of chromosomes present in a cell and is called ploidy. 

The two types of ploidy are:

(i) Euploidy: It is the condition, in which the individual bears more than the usual number. If an individual has three haploid sets of chromosomes, the condition is called triploidy [3n]. Triploid plants and animals are sterile. If an individual has four haploid sets of chromosomes, the condition is called tetraploidy [4n], Tetraploid plants often result in increased fruit and flower size.

(ii) Aneuploidy: It is the loss or gain of one or more chromosomes in a set. 

It is of three types:

  • Monosomy [2n – 1]
  • Trisomy [2n + 1]
  • Nullisomy [2n – 2]

(iii) Down’s syndrome: It is one of the commonly known aneuploid condition, in man. It is a genetic condition, in which there is an extra copy of chromosome 21 (Trisomy 21). It is associated with mental retardation, delayed development, behavioural problems, weak muscle tone, vision and hearing disability are some of the conditions seen in children.

2. Gene or point mutation: Gene mutation is the changes occurring in the nucleotide sequence of a gene. It involves substitution, deletion, insertion or inversion of a single or more than one nitrogenous base. Gene alteration results in abnormal protein formation.

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