title: Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.
abstract: The distribution of 9 known mutations in the CFTR gene were studied in 234 CF chromosomes originating from 117 unrelated cystic fibrosis (CF) patients from Slovakia, a population which is geographically situated at the borders between Western and Eastern Europe, and Northern and Southern Europe. The following 7 mutations were identified in this sample: delta F508 (59.4%), G542X (5.56%), R553X (3.42%), N1303K (2.99%), R347P (1.71%), W1282X (0.85%), and 3849 + 10 kb (0.43%). These mutations represent 74.36% of all CF mutations, providing a good basis for direct DNA-based diagnosis of CF in Slovakia.
authors.affiliation: Institute of Molecular Physiology and Genetics, Bratislava, Slovakia.
authors.forename: L
authors.initials: L
authors.lastname: Kádasi
authors.forename: H
authors.initials: H
authors.lastname: Poláková
authors.forename: A
authors.initials: A
authors.lastname: Zatková
authors.forename: H
authors.initials: H
authors.lastname: Kayserová
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D009154:Mutation; D018154:Slovakia
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator