Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.
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.
Kádasi
L
L
Institute of Molecular Physiology and Genetics, Bratislava, Slovakia.
Poláková
H
H
Zatková
A
A
Kayserová
H
H
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D009154:Mutation; D018154:Slovakia
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator