Exemplar Problems

Question:

What is point mutation? Give one example.

Answer:

A point mutation is a type of genetic mutation that involves the substitution, deletion, or insertion of a single nucleotide (base) in the DNA sequence.

Example: A common point mutation is a single base substitution where one nucleotide is replaced by another. For instance, in sickle cell anemia, a point mutation occurs in the beta-globin gene, where adenine (A) is replaced by thymine (T) in the DNA sequence, resulting in the substitution of glutamic acid with valine in the hemoglobin protein.