Detection of the G34R mutation in the 5 alpha reductase 2 gene by allele specific PCR and its linkage to the 89L allele among Egyptian cases.

The 5 alpha-reductase type 2 deficiency is an autosomal recessive disorder of sexual development among 46,XY individuals. In Egypt, there is a prevalence of a G34R disease underlying mutation. This study aimed to devise a rapid diagnostic method based on allele specific PCR (AS-PCR) and a linked polymorphism (V89L). The results showed that one set of primers was capable to differentiate between normal, heterozygous, and affected individuals efficiently. All 34R mutation carrying sequences had 100% linkage to the 89L allele, contrasting normal ones with low 89L frequencies. This linkage infers a founder effect among Egyptians having G34R mutation. 2007 S. Karger AG, Basel