Codon 89 polymorphism of the human 5α‐steroid reductase type 2 gene
1997; Wiley; Volume: 51; Issue: 6 Linguagem: Inglês
10.1111/j.1399-0004.1997.tb02498.x
ISSN1399-0004
AutoresFelipe Vilchis, David Guillermo Hernández, Patricia Canto, Juan Pablo Méndez, Bertha Chávez,
Tópico(s)Estrogen and related hormone effects
ResumoThe existence of a genetic polymorphism within the coding region of the human 5α‐steroid reductase type 2 (5α‐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 5α‐SR2 gene represents a silent polymorphism which does not alter phenotypical development in the human.
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