title: Codon 89 polymorphism of the human 5alpha-steroid reductase type 2 gene.
abstract: The existence of a genetic polymorphism within the coding region of the human 5alpha-steroid reductase type 2 (5alpha-SR2) gene is reported in a Mexican population. Genotypic variation was assessed in 100 unrelated, healthy volunteers (50 males; 50 females), using single-stranded conformational polymorphism and direct sequencing analysis. Examination of exon 1 DNAs disclosed the presence of sequences encoding for valine (GTA) or leucine (CTA) at codon 89 of the gene. Of the subjects screened, 45% were homozygous for GTA (89Val), 50% had a heterozygous pattern GTA/CTA (89Val/89Leu) and the remaining 5% were homozygous for CTA (89Leu). These data support the view that the G/C condition at codon 89 of the 5alpha-SR2 gene represents a silent polymorphism which does not alter phenotypical development in the human.
authors.affiliation: Department of Reproductive Biology, Instituto Nacional de la NutriciónS.Z., México D.F.
authors.forename: F
authors.initials: F
authors.lastname: Vilchis
authors.forename: D
authors.initials: D
authors.lastname: Hernández
authors.forename: P
authors.initials: P
authors.lastname: Canto
authors.forename: J P
authors.initials: JP
authors.lastname: Méndez
authors.forename: B
authors.initials: B
authors.lastname: Chávez
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D000328:Adult; D000483:Alleles; D003062:Codon; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008800:Mexico; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D014633:Valine / Q000235:genetics
chemical_list: D003062:Codon; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; D014633:Valine