title: Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia.
abstract: 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 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.
authors.affiliation: DNA Diagnostics Laboratory, Russian Research Center of Perinatology, Obstetrics and Gynecology, Moscow.
authors.forename: O V
authors.initials: OV
authors.lastname: Evgrafov
authors.forename: A V
authors.initials: AV
authors.lastname: Polyakov
authors.forename: I G
authors.initials: IG
authors.lastname: Dzenis
authors.forename: V A
authors.initials: VA
authors.lastname: Baharev
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology* / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D002877:Chromosomes, Human; D005091:Exons; D005192:Family Health; D005260:Female; D018703:Founder Effect; D005828:Genetics, Population; D006680:HLA Antigens / Q000235:genetics; D015234:HLA-A Antigens / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011401:Promoter Regions, Genetic; D012426:Russia / Q000453:epidemiology; D013223:Statistics as Topic; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D006680:HLA Antigens; D015234:HLA-A Antigens; D015235:HLA-B Antigens; D013255:Steroid 21-Hydroxylase