Which of the following genetic disorders is caused by a single nucleotide polymorphism?

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Down’s syndrome

Sickle cell disease

Turner’s syndrome

Klinefelter’s syndrome

answer is B.

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Detailed Solution

Single nucleotide polymorphisms (SNPs) refers to variation of a single nucleotide within a locus. Sickle cell disease is caused by a single nucleotide polymorphism (SNP) in the first exon of the β-globin gene (HBB). The point mutation causes the single base substitution at the sixth codon of the beta globin gene from GAG to GUG. As a result, glutamic acid is substituted by valine at the sixth position of the beta globin chain of the haemoglobin molecule. The mutant haemoglobin molecule undergoes polymerisation under low oxygen tension causing the change in the shape of the RBC from biconcave disc to elongated sickle-like structure.

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