5 Alpha-Reductase-2 Gene Mutations in the Dominican Republic
May 1996
in “
The Journal of Clinical Endocrinology & Metabolism
”
TLDR Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
In a study of male pseudohermaphroditism due to 5 alpha-reductase deficiency in the Dominican Republic, researchers identified multiple mutations in the 5 alpha-reductase-2 gene among affected individuals. Initially, a single base substitution causing a tryptophan replacement of arginine at amino acid 246 (R246W) was found in a large kindred. Further analysis of four additional families revealed two other mutations: one on exon 2 causing an aspartic acid replacement of glycine at amino acid 115 (G115D), and another on exon 3 causing a serine replacement for glycine at amino acid 183 (G183S). Despite similar phenotypic and biochemical characteristics among the subjects, the presence of different mutations indicated a lack of common ancestry for the gene defect in this population.
