Question

Which disease is caused by point mutation?

Answer 1

Point mutation refers to the single nucleotide change in genes or single amino acid change in proteins. The common example is the sickle-cell anemia. This is a disorder caused due to a point mutation in the $\beta$- globin chain of hemoglobin. There is a point mutation which replaces A by U and results in glutamic acid replaced by valine. This results in the formation of abnormal hemoglobin and sickle-shaped RBCs. The sickle-shaped RBCs clumps and gets damaged during flow.