title: [The importance of DNA analysis in the diagnosis of steroid 5-alpha-reductase deficiency].
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).
authors.affiliation: Katedra i Zakład Chemii Fizjologicznej A.M., K. Marcinkowskiego, Poznaniu, kierownik.
authors.forename: A
authors.initials: A
authors.lastname: Kostyrko
authors.forename: J
authors.initials: J
authors.lastname: Antkowiak
authors.forename: A
authors.initials: A
authors.lastname: Warenik-Szymankiewicz
authors.forename: W H
authors.initials: WH
authors.lastname: Trzeciak
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000032:analysis*; D012734:Disorders of Sex Development / Q000201:enzymology / Q000235:genetics*; D005784:Gene Amplification; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D004247:DNA; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase
vernacular_title: Znaczenie badań DNA w diagnostyce niedoboru 5-alfa-reduktazy sterydowej.