The most important example of point mutation | vedclass

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(D) Sickle-cell anaemia is a classic example of a point mutation.It is caused by a single base pair substitution in the gene coding for the $\beta$-gl

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Sickle-cell anaemia

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(D) Sickle-cell anaemia is a classic example of a point mutation.It is caused by a single base pair substitution in the gene coding for the $\beta$-globin chain of hemoglobin.Specifically,the codon $GAG$ is replaced by $GUG$ at the sixth position of the $\beta$-globin chain.This results in the substitution of the amino acid glutamic acid with valine,which leads to the formation of abnormal hemoglobin $(HbS)$ and causes the red blood cells to become sickle-shaped under low oxygen tension.

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

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