Molecular diagnosis of 5 alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism

作者：Eunice Marumudi; Philibert Pascal; Kulshreshtha Bindu; Audran Francoise; Paris Francoise; Khurana Madan L; Pulikkanath Praveen E; Kucheria Kiran; Sultan Charles; Ammini Ariachery C^*

来源：Asian Journal of Andrology, 2008, 10(5): 815-818.

DOI：10.1111/j.1745-7262.2008.00350.x

• male pseudohermaptiroditism
• 5 alpha RD-2 deficiency
• dihydrotestosterone
• SRD5A2 gene mutation
• perineoscrotal hypospadias

Aim: To identify the genotype of two Indians with male pseudohermaphroditism. Methods: Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5 alpha-reductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus. Results: We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India. Conclusion: Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect.

• 出版日期2008-9
• 单位河北医科大学