title: 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.
abstract: 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.
authors.affiliation: Division of Human Genetics and Genome Research, National Research Center, Cairo, Egypt.
authors.forename: Y Z
authors.initials: YZ
authors.lastname: Gad
authors.forename: R
authors.initials: R
authors.lastname: Khairt
authors.forename: I
authors.initials: I
authors.lastname: Mazen
authors.forename: H G
authors.initials: HG
authors.lastname: Osman
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency / Q000235:genetics*; D000483:Alleles; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics*; D004534:Egypt; D008040:Genetic Linkage / Q000235:genetics*; D005838:Genotype; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase