5 Alpha-Reductase-2 Gene Mutations in the Dominican Republic

    May 1996 in “ The Journal of Clinical Endocrinology & Metabolism ”
    Li‐Qun Cai, Yuan‐Shan Zhu, Melissa D. Katz, Cecilia Herrera, Juan M. Baez, M DeFillo-Ricart, C.H.L. Shackleton, Julianne Imperato‐McGinley
    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.
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