title: The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.
abstract: Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the major mutation (delta F508) in the Hungarian population is 64%. To identify other common mutations in CF families from Hungary, 30 non-delta F508 CF chromosomes were analyzed for selected mutations in exon 11 (G551D, R553X, G542X), intron 4 (621 + 1G----T), intron 10 (1717-1G----A), exon 20 (W1282X), and in exon 21 (N1303K) of the CFTR gene. In 6 of the 30 non-delta F508 CF chromosomes the following mutations were detected: R553X, G542X, 1717-1G----A, W1282X, and N1303K. After analysis of the above eight mutations, 30% of CF chromosomes are as yet undefined and further analysis is planned.
authors.affiliation: Division of Medical Genetics, Children's Hospital Oakland, CA 94609.
authors.forename: M
authors.initials: M
authors.lastname: Nemeti
authors.forename: J P
authors.initials: JP
authors.lastname: Johnson
authors.forename: Z
authors.initials: Z
authors.lastname: Papp
authors.forename: E
authors.initials: E
authors.lastname: Louie
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D006814:Hungary; D007438:Introns / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D011296:Prenatal Diagnosis
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator