title: Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism.
abstract: OBJECTIVE
  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 5alpha-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.
  
  
  CONCLUSIONS
  Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect.
authors: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India.
authors: Marumudi
authors: M
authors: Eunice
authors: Pascal
authors: P
authors: Philibert
authors: Bindu
authors: B
authors: Kulshreshtha
authors: Francoise
authors: F
authors: Audran
authors: Francoise
authors: F
authors: Paris
authors: Madan L
authors: ML
authors: Khurana
authors: Praveen E
authors: PE
authors: Pulikkanath
authors: Kiran
authors: K
authors: Kucheria
authors: Charles
authors: C
authors: Sultan
authors: Ariachery C
authors: AC
authors: Ammini
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D002648:Child; D013196:Dihydrotestosterone / Q000097:blood; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology*; D005192:Family Health; D005640:Follicle Stimulating Hormone / Q000097:blood; D018703:Founder Effect; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007021:Hypospadias / Q000235:genetics / Q000473:pathology; D007194:India; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D020125:Mutation, Missense; D013739:Testosterone / Q000097:blood
chemical_list: D013196:Dihydrotestosterone; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase