Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients

Abstract

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 ΔF508 mutation was 58% in this population, and that the frequency of the B (i.e., KM19/XV2c [1–2]) haplotype was increased in both ΔF508 and nonΔF508 CF chromosomes (98% and 46%, respectively). These results support the view that the trans-European gradient of the ΔF508 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 ΔF508, associated with the B haplotype.

DOI: 10.1007/BF00220546

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Cite this paper

@article{Kdasi2004DeletionA, title={Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients}, author={Ludov{\'i}t K{\'a}dasi and Jozef Gecz and Jill Anne Matusek and T. Krivu{\vs}ov{\'a} and Vladim{\'i}r Fer{\'a}k and Marcella Devoto and J. Hru{\vs}kovi{\vc} and Giovanni Romeo}, journal={Human Genetics}, year={2004}, volume={89}, pages={305-306} }