Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients.
Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and Southern hybridization revealed that the proportion of the delta F508 mutation was 58% in this population, and that the frequency of the B (i.e., KM19/XV2c [1-2]) haplotype was increased in both delta F508 and non-delta F508 CF chromosomes (98% and 46%, respectively). These results support the view that the trans-European gradient of the delta F508 frequency is of a geographical rather than of an ethnic origin, and that in Slavonic populations, there exists an as yet unidentified but frequent CF mutation other than delta F508, associated with the B haplotype.
Kádasi
L
L
Institute of Molecular Physiology and Genetics SAS, Bratislava, Czechoslovakia.
Gécz
J
J
Matúsek
J
J
Krivusová
T
T
Ferák
V
V
Devoto
M
M
Hruskovic
J
J
Romeo
G
G
D015139:Blotting, Southern; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D003604:Czechoslovakia / Q000453:epidemiology; D005787:Gene Frequency / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator