Question

what is point mutuation ? give a example
​

Answer 1

A point mutation or substitution is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome.

Ex - Sickle-cell disease is caused by a single point mutation (a missense mutation) in the beta-hemoglobin gene that converts a GAG codon into GUG, which encodes the amino acid valine rather than glutamic acid.

(OR)

Point mutation is the mutation that affects a single nucleotide or nucleic acid. It commonly occurs when one base is substituted for the other. It may also result due to insertion and deletion of a single base pair.

Ex -

• Cystic fibrosis: It occurs due to the deletion of three nucleotides in the CFTR gene. In this, an amino acid phenylalanine is lost which causes misfolding of protein.
• Sickle cell anemia: It is caused by single point mutation in the beta haemoglobin gene. This results in the conversion of GAG codon into.

Hope it helps.......