Question

Sickle-cell anaemia in humans is a result of point mutation. Explain.

Answer 1

Point mutation is a genetic mutation in which a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA. In sickle-cell anaemia single point mutation occurs. This point mutation occurs in the beta-haemoglobin gene. It converts a GAG codon (sixth codon) into GUG codon which encodes the amino acid valine rather than glutamic acid.