Question

The most striking example of point mutation is found in a disease called

• A. Down's syndrome
• B. sickle cell anaemia
• C. thalassaemia
• D. night blindness.

Answer 1

Answer: (B)

Point mutation involves only the replacement of one nucleotide with another. One type of point mutation is missense mutation. These are base changes that alter the codon for an amino acid resulting in its substitution with a different amino acid. For example, mutation of the codon CTT to ATT would result in the replacement of the hydrophobic amino acid leucine with isoleucine, another hydrophobic amino acid. Many other missense mutations have been described which do affect the encoded protein and result in genetic diseases. These include an A to T mutation in the gene for b-globin, one of the polypeptides of hemoglobin. This mutation changes codon six of the gene from GAG which encodes glutamic acid to GTG which encodes valine. The mutation results in a condition called sickle cell anaemia in which the red blood cells adopt an abnormal sickle shape due to aggregation of the hemoglobin molecules. The abnormal cells are short- lived, which causes anaemia and become lodged in capillaries, which reduces the blood supply to organs. Principles of Inheritance and Variation 357