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Molecular analysis of the 5α-steroid reductase type 2 gene in a family with deficiency of the enzyme

✍ Scribed by Vilchis, F.; Canto, P.; Chávez, B.; Ulloa-Aguirre, A.; Méndez, J. P.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
135 KB
Volume
69
Category
Article
ISSN
0148-7299

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✦ Synopsis

This report describes the identification of a point mutation in the 5␣-reductase type 2 (5␣-SR2) gene from a family in which both sibs (6 and 3 years old) have steroid 5␣-reductase 2 deficiency. The five exons of the gene were individually amplified by the polymerase chain reaction (PCR) and analysed for single-strand conformation polymorphisms (SSCP) to detect mutations. Direct sequencing of the mutant PCR products demonstrated a single C→T mutation, within exon 4, changing codon 227 from CGA (Arg) to TGA (premature termination signal). Both patients were homozygous for the mutation, but their parents were heterozygous. These results suggest that the mutation at codon 227 impairs normal 5␣-SR2 function, thus leading to the phenotypical expression of this rare enzymatic defect.

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