Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients

L Kádasi; H Poláková; A Zatková; H Kayserová

Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients

Gene Geogr. 1997 Apr;11(1):51-6.

Authors

L Kádasi¹, H Poláková, A Zatková, H Kayserová

Affiliation

¹ Institute of Molecular Physiology and Genetics, Bratislava, Slovakia.

PMID: 9615214

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Gene Frequency
Humans
Mutation*
Slovakia

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator