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  • Title: [The importance of DNA analysis in the diagnosis of steroid 5-alpha-reductase deficiency].
    Author: Kostyrko A, Antkowiak J, Warenik-Szymankiewicz A, Trzeciak WH.
    Journal: Ginekol Pol; 1994 Jul; 65(7):400-6. PubMed ID: 8001864.
    Abstract:
    The deficiency of steroid 5 alpha-reductase leads to the disturbances in sex differentiation that cause symptoms of male pseudohermaphroditism. The methods of DNA analysis used to diagnose mutations of steroid 5 alpha-reductase gene (SRD5A2) were presented and discussed. Within the group of 21 patients with the deficiency of steroid 5 alpha-reductase 2 described so far in literature, the analysis of SRD5A2 gene revealed two "major" deletions, one "minor" deletion, 16 point mutations (incl. 5 transitions and 11 transversions), in one case a mutation causing premature termination of translation and in one case mutation leading to defective splicing of the mRNA. The mutations localized in exons 2 and 5 cause a decrease in affinity of 5 alpha-reductase 2 to the substrate (testosterone), while the mutations in exons 1 and 4, a decrease in affinity to the coenzyme (NADPH).
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