title: Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women.
abstract: OBJECTIVE
  To examine the gene encoding for 5alpha-reductase type 1 in hyperandrogenic women, and assess the association of its eventual mutations or polymorphisms with the development of the hyperandrogenic female pattern.
  
  
  METHODS
  Sixteen hyperandrogenic women were included in the study. Single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing were performed after polymerase chain reaction amplification of each of the 5 exons of the SRD5A1 gene in both hyperandrogenic and control group (16 participants).
  
  
  RESULTS
  Sequence analysis identified the existence of many polymorphisms; in codon 24 of exon 1, GGC (Gly) into GAC (Asp); in codon 30 of exon 1, CGG (Arg) into CGC (Arg); in exon 3 codon 169, ACA to ACG (both encoding for threonine); in exon 5, AGA to AGG (both encoding for arginine, codon 260); and T/C polymorphism in intron 2. Polymorphisms were found in both groups.
  
  
  CONCLUSIONS
  Polymorphisms of SRD5A1 gene were the same in both hyperandrogenic and healthy women, indicating no significant associations of genetic polymorphisms/variations of SRD5A1 gene with clinical manifestations of hyperandrogenic disorders in women.
authors.affiliation: Department of Molecular Pathology, University Clinical Center Tuzla, Trnovac bb, 75000 Tuzla, Bosnia and Herzegovina. izeteminovic@hotmail.com
authors.forename: Izet
authors.initials: I
authors.lastname: Eminović
authors.forename: Radovan
authors.initials: R
authors.lastname: Komel
authors.forename: Janez
authors.initials: J
authors.lastname: Prezelj
authors.forename: Jasenko
authors.initials: J
authors.lastname: Karamehić
authors.forename: Faris
authors.initials: F
authors.lastname: Gavrankapetanović
authors.forename: Becir
authors.initials: B
authors.lastname: Heljić
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D000328:Adult; D017522:Bosnia and Herzegovina; D005260:Female; D006801:Humans; D017588:Hyperandrogenism / Q000201:enzymology / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase