Question

What is the classic example of a point mutation?

Options

• Cancer cell mutations

• Sickle cell anaemia

• Down's syndrome

• Frameshift in β-globin gene

Answer 1

Sickle cell anaemia is the classic example of a point mutation, where a single nucleotide substitution in the β-globin gene causes the production of abnormal hemoglobin, resulting in the characteristic sickle-shaped red blood cells. This point mutation demonstrates how a single base pair change can significantly affect phenotype.