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Genomics revolution on andrology： genetic testing for male infertility

Asian Journal of Andrology 2010年第3期12卷 449-450页

作者： marumudi eunic. Ariachery Chinnama Ammini Department of Endocrinology and Metabolism All lndia Institute of Medical Sciences New Delhi 110029 lndia

Dear Editor, We would like to write to you on the era of＇omics-- genomics revolution on andrology, the way that has taken into a new dimension for tackling the emerging pressure on male infertility and for normal successful fertility outcome. In the Special Issue on Semen Analysis of Asian Journal ofAndrology, Aitken [1] has extensively discussed the causes of male infertility,

关键词： Genomics genetic infertility

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

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Asian Journal of Andrology 2008年第5期10卷 815-818页

作者： marumudi eunic. Pascal Philibert Bindu Kulshreshtha Francoise Audran Francoise Paris Madan L. Khurana Praveen E. Pulikkanath Kiran Kucheria Charles Sultan Ariachery C. Ammin Department of Endocrinology and Metabolism All India Institute of Medical Sciences Ansari Nagar New Delhi-110029 India Department of Anatomy All India Institute of Medical Sciences Ansari Nagar New Delhi-110029 India Pediatric Endocrine Unit and the Hormones Laboratory of the University Hospital of Montpellier 34295 Montpellier Cedex 5 France

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.

关键词： male pseudohermaphroditism 5αRD-2 deficiency dihydrotestosterone SRD5A2 gene mutation perineoscrotal hypospadias

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