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 carded out fo...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 carded 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 5α- reductase type 2 gene （SRDSA2） gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus. Results： We found an SRDSA2 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 SRDSA2 gene from two unrelated Indian families possibly extends the founder gene effect.展开更多
文摘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 carded 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 5α- reductase type 2 gene （SRDSA2） gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus. Results： We found an SRDSA2 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 SRDSA2 gene from two unrelated Indian families possibly extends the founder gene effect.
