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Preliminary investigation of mutations in 21‐hydroxylase gene in patients with congenital adrenal hyperplasia in Russia
Author(s) -
Evgrafov Oleg Vadimovich,
Polyakov Alexandr Vladimirovich,
Dzenis Irina Genrikhovna,
Baharev Vladimir Anatol'evich
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380050206
Subject(s) - biology , 21 hydroxylase , congenital adrenal hyperplasia , gene , mutation , genetics , cyp17a1 , endocrinology , medicine
Mutations in 21 hydroxylase gene were investigated in 40 Russian patients with congenital adrenal hyperplasia. Quantitative amplification/restriction procedure was used for detection of mutations involving 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 DQA1 gene. The most frequent (>20% 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‐DQA1 0201/0601 haplotype. Two other mutations were linked with A3‐B35‐DQA1 0401/0402 and A3‐B40‐DQA1 0201/0601 haplotypes. © Wiley‐Liss, Inc.