5.5 Mutation

Mutation is a phenomenon which results in alteration of DNA sequences and consequently results in changes in the genotype and the phenotype of an organism. In addition to recombination, mutation is another phenomenon that leads to variation in DNA.

As you will learn in Chapter 6, one DNA helix runs continuously from one end to the other in each chromatid, in a highly supercoiled form. Therefore loss (deletions) or gain (insertion/duplication) of a segment of DNA, result in alteration in chromosomes.

Since genes are known to be located on chromosomes, alteration in chromosomes results in abnormalities or aberrations. Chromosomal aberrations are commonly observed in cancer cells. In addition to the above, mutation also arise due to change in a single base pair of DNA. This is known as point mutation.

A classical example of such a mutation is sickle cell anemia. Deletions and insertions of base pairs of DNA, causes frame-shift mutations (see Chapter 6). The mechanism of mutation is beyond the scope of this discussion, at this level. However, there are many chemical and physical factors that induce mutations. These are referred to as mutagens. UV radiations can cause mutations in organisms – it is a mutagen.

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