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

L. Kádasi; J. Gécz; J. Matúšek; T. Krivušová; V. Ferák; M. Devoto; J. Hruškovič; G. Romeo

doi:10.1007/BF00220546

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

L. Kádasi, J. Gécz, J. Matúšek, T. Krivušová, V. Ferák, M. Devoto, J. Hruškovič, G. Romeo

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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.

Original language	English
Pages (from-to)	305-306
Number of pages	2
Journal	Human Genetics
Volume	89
Issue number	3
DOIs	https://doi.org/10.1007/BF00220546
Publication status	Published or Issued - May 1992
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "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.",

author = "L. K{\'a}dasi and J. G{\'e}cz and J. Mat{\'u}{\v s}ek and T. Krivu{\v s}ov{\'a} and V. Fer{\'a}k and M. Devoto and J. Hru{\v s}kovi{\v c} and G. Romeo",

year = "1992",

month = may,

doi = "10.1007/BF00220546",

language = "English",

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TY - JOUR

T1 - Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients

AU - Kádasi, L.

AU - Gécz, J.

AU - Matúšek, J.

AU - Krivušová, T.

AU - Ferák, V.

AU - Devoto, M.

AU - Hruškovič, J.

AU - Romeo, G.

PY - 1992/5

Y1 - 1992/5

N2 - 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.

AB - 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.

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DO - 10.1007/BF00220546

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JO - Human Genetics

JF - Human Genetics

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ER -

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

Abstract

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