title: [The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia].
abstract: Up to present, more than 500 mutations have been described in the CFTR gene of patients affected by cystic fibrosis (CF). The vast majority of them, however, are extremely rare, and in fact, were detected only in the original reported cases. This study is aimed at analysis of 9 known mutations in the CFTR gene in CF patients within the population of Slovakia. The region in question of the human genome was analysed by means of polymerase chain reaction (PCR), digestion with the appropriate restriction enzyme, followed by electrophoretic separation of generated DNA fragments. 7 different mutations were identified on 234 CF-chromosomes, which made up 74.36% of all CF-mutations: delta F508--59.4%, G542X--5.56%, R553X--3.42%, N1303K--2.99%, R347P--1.71%, W1282X--0.85%, and 3849 + 10kb--0.43%. In 57.26% of patients mutations were identified on both homological chromosomes, in 33.33% on one of them, and only in 9.4% of patients there were none of the analysed mutations found. These results provide a good basis for the planning and setting up of an effective strategy for direct DNA-based diagnosis of CF in Slovakia. (Tab. 4, Ref. 19.)
authors.affiliation: Ustav molekulárnej fyziológie a genetiky Slovenskej akadémie vied v Bratislave.
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
authors.forename: I
authors.initials: I
authors.lastname: Hruskovic
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D018154:Slovakia
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
vernacular_title: Spektrum mutácií v géne CFTR u pacientov postihnutých cystickou fibrózou z populácie Slovenska.