title: [Analysis of various polymorphic markers of the CFTR gene in cystic fibrosis patients and healthy donors from the Moscow region].
abstract: Allelic frequencies at three polymorphic markers in the CFTR gene were detected on chromosomes derived from cystic fibrosis (CF) patients and healthy donors from Moscow and the Moscow region. These polymorphic markers are tetranucleotide tandem repeats GATT in intron 6B, M470V in exon 10, and T854T in exon 14 (fragment A). Frequencies at allele 1 of the M470V marker, along with allele 2 of GATT and T854T, are two times higher for CF patients without delta F508 mutation than for healthy donors, and there is linkage disequilibrium of these alleles of the polymorphic markers analyzed with the CF gene. Allele 1 of M470V and T854T markers, as well as allele 2 of the GATT marker (six repeats), are absolutely linked to mutation F508 of the CFTR gene. Using the polymorphic markers studied, family analysis of CF was carried out in two families.
authors.forename: F A
authors.initials: FA
authors.lastname: Amosenko
authors.forename: M A
authors.initials: MA
authors.lastname: Sazonova
authors.forename: N I
authors.initials: NI
authors.lastname: Kapranov
authors.forename: I S
authors.initials: IS
authors.lastname: Trubnikova
authors.forename: V N
authors.initials: VN
authors.lastname: Kalinin
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D005787:Gene Frequency; D005819:Genetic Markers; D006801:Humans; D015810:Linkage Disequilibrium; D009031:Moscow; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests; D012016:Reference Values; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D005819:Genetic Markers