title: [TUB9 polymorphism in the CFTR gene of cystic fibrosis patients, carriers, and healthy donors from the Moscow region. SSCP and restriction analyses].
abstract: Data on the screening of 266 non-delta F508 chromosomes (42 cystic fibrosis patients, 43 carriers, and 48 healthy donors from the Moscow region) for the presence of structural abnormalities within the tenth exon of the CFTR gene conducted by means of the single-stranded conformation polymorphism (SSCP) technique in nonisotope modification are presented. The method used made it possible to detect three SSCP variants, one of which was present in cystic fibrosis patients (23.8%) and carriers (9.3%), but not in healthy donors. Sequencing of the 5 amplified DNA fragments carrying this SSCP variant revealed an A-->G substitution in the 1525-61 position, which indicated the presence of TUB9 polymorphism with allele 1 in the homozygous state in all cases tested. The three SSCP variants described corresponded to the three allelic variants of TUB9 polymorphism as judged by MnlI restriction analysis of the amplified tenth exon sequence. The modified SSCP technique is also suitable for routine screening for the G542X, G55ID, and W1282X point mutations within the CFTR gene. The frequency distribution of polymorphic TUB9 marker alleles across the non-delta F508 chromosomes in the three studied groups were estimated. Homozygotes for the TUB9 allele 1 were shown to have identical GATT-TUB9-M470V haplotypes.
authors.forename: F A
authors.initials: FA
authors.lastname: Amosenko
authors.forename: I S
authors.initials: IS
authors.lastname: Trubnikova
authors.forename: V M
authors.initials: VM
authors.lastname: Zakhar'ev
authors.forename: V M
authors.initials: VM
authors.lastname: Bannikov
authors.forename: M A
authors.initials: MA
authors.lastname: Sazonova
authors.forename: N V
authors.initials: NV
authors.lastname: Petrova
authors.forename: N I
authors.initials: NI
authors.lastname: Kapranov
authors.forename: V N
authors.initials: VN
authors.lastname: Kaplinin
mesh_terms: D016022:Case-Control Studies; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005819:Genetic Markers; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D009031:Moscow; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012016:Reference Values; D015183:Restriction Mapping
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
vernacular_title: Polimorfizm TUB9 v gene TRBM bol'nykh mukovistsidozom, nositeleĭ i zdorovykh donorov Moskovskogo regiona. SSCP-analiz i restriktsionnyĭ analiz.