Codon 89 polymorphism of the human 5alpha-steroid reductase type 2 gene.
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.
Vilchis
F
F
Department of Reproductive Biology, Instituto Nacional de la NutriciónS.Z., México D.F.
Hernández
D
D
Canto
P
P
Méndez
J P
JP
Chávez
B
B
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
D003062:Codon; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; D014633:Valine