title: [Reliability of the Search for 19 Common Mutations in the CFTR Gene in Russian Cystic Fibrosis Patients and the Calculated Frequency of the Disease in Russian Federation].
abstract: A study of Russian cystic fibrosis (CF) patient DNA was conducted to assess the incidence frequency of 19 mutations, namely CFTRdele2,3(21kb), F508del, I507del, 1677delTA, 2143delT, 2184insA, 394delTT, 3821delT, L138ins, 604insA, 3944delGT, G542X, W128X, N1303K, R334W, and 3849+10kbC>T, S1196X, 621+1g>t, and E92K of the CFTR gene. We also sought to determine the estimated CF frequency in Russian Federation. In addition, we determined the total information content of the approach for 19 common mutations registration in the CFTR gene, 84.6%, and the allelic frequencies of the examined mutations: three mutations were observed with a frequency exceeding 5% (F508del, 53.98%, E92K, 6.47%, CFTRdele2,3(21kb), 5.35%); other mutations were observed with frequencies ranging from 0.13% to 3.0%. The CF population carrier frequency was 1 in 38 subjects, while the predicted CF frequency was 1 in 5776 newborns.
authors.forename: A A
authors.initials: AA
authors.lastname: Stepanova
authors.forename: S A
authors.initials: SA
authors.lastname: Krasovsky
authors.forename: A V
authors.initials: AV
authors.lastname: Polyakov
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D012426:Russia
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator