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.

doi:10.1159/000108931

Article

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.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2007

Gad Y Z, Khairt R, Mazen I, Osman H G

Abstract excerpt

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,...

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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.

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