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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women.

AIM: 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. CONCLUSION: 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.[1]


  1. Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women. Eminović, I., Komel, R., Prezelj, J., Karamehić, J., Gavrankapetanović, F., Heljić, B. Croat. Med. J. (2005) [Pubmed]
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