Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women.
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.
Eminović
Izet
I
Department of Molecular Pathology, University Clinical Center Tuzla, Trnovac bb, 75000 Tuzla, Bosnia and Herzegovina. izeteminovic@hotmail.com
Komel
Radovan
R
Prezelj
Janez
J
Karamehić
Jasenko
J
Gavrankapetanović
Faris
F
Heljić
Becir
B
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
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase