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Codon 89 polymorphism of the human 5α‐steroid reductase type 2 gene
Author(s) -
Vilchis F.,
Hernández D.,
Canto P.,
Méndez J.P.,
Chávez B.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02498.x
Subject(s) - genetics , coding region , exon , genotype , gene , polymorphism (computer science) , biology , valine , start codon , population , microbiology and biotechnology , amino acid , medicine , messenger rna , environmental health
The 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.