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Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia

โœ Scribed by Oleg Vadimovich Evgrafov; Alexandr Vladimirovich Polyakov; Irina Genrikhovna Dzenis; Vladimir Anatol'evich Baharev

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
587 KB
Volume
5
Category
Article
ISSN
1059-7794

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โœฆ Synopsis

Communicated by Vladislav Baranov

Mutations in 2 1 hydroxylase gene were investigated in 40 Russian patients with congenital adrenal hyperplasia. Quantitative amplificationhestriction procedure was used for detection of mutations in. volving promoter region, 3 and 8 exons. For affected chromosomes alleles of tightly linked HLA A and B genes were defined, as well as 5 different alleles or allele combinations of HLA D Q A l gene. The most frequent (>20?40 of chromosomes) cause of salt wasting adrenal hyperplasia in Russia is a chimeric CYP21A-CYP21B gene with normal copy of a pseudogene which results from gene conversion in chromosome with B14-DQA1 0101/0102 haplotype. The second common mutation (about 10%) is a result of intragenic recombination well-known deletion of the gene linked with A3-B47-DQAl 0201/0601 haplotype. Two other mutations were linked with A3-B35-DQAl 0401/0402 and A3-B40-DQAl 0201/0601 haplotypes. o 1995 WiIey-Liss, Inc.

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