Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations

M. Devoto, L. De Benedetti, M. Seia, L. Piceni Sereni, M. Ferrari, M. L. Bonduelle, A. Malfroot, W. Lissens, A. Balassopoulqu, G. Adam, D. Loukopoulos, P. Cochaux, G. Vassart, R. Szibor, J. Hein, K. Grade, W. Berger, B. Wainwright, G. Romeo

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Abstract

We examined the allele and haplotype frequencies of five polymorphic DNA markers in 355 European cystic fibrosis (CF) patients (from Belgium, the German Democratic Republic, Greece, and Italy) who were divided into two groups according to whether they were or not taking supplementary pancreatic enzymes. The level of linkage disequilibrium between each polymorphism and the CF mutation varied among the different populations; there was no significant association between KM.19 and CF in the Greek population. The distributions of alleles and haplotypes derived from the polymorphisms revealed by probes KM.19 and XV.2c were always different in patients with or without pancreatic insufficiency (PI) in all the populations studied. In particular, among 32 patients without PI, only 9 (or 28%) were homozygous for the KM.19-XV.2c = 2-1 haplotype (which was present in 73% of all the CF chromosomes in our sample) compared to 162 of 252 patients (or 64%) with PI. These findings are consistent with the hypothesis that pancreatic insufficiency or sufficiency may be determined by different mutations at the CF locus.

Original languageEnglish
Pages (from-to)894-898
Number of pages5
JournalGenomics
Volume5
Issue number4
DOIs
Publication statusPublished - 1989

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Exocrine Pancreatic Insufficiency
Cystic Fibrosis
Haplotypes
Population
East Germany
Mutation
Greece
Belgium
Linkage Disequilibrium
Genetic Markers
Gene Frequency
Italy
Chromosomes
Alleles
Enzymes

ASJC Scopus subject areas

  • Genetics

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Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations. / Devoto, M.; De Benedetti, L.; Seia, M.; Sereni, L. Piceni; Ferrari, M.; Bonduelle, M. L.; Malfroot, A.; Lissens, W.; Balassopoulqu, A.; Adam, G.; Loukopoulos, D.; Cochaux, P.; Vassart, G.; Szibor, R.; Hein, J.; Grade, K.; Berger, W.; Wainwright, B.; Romeo, G.

In: Genomics, Vol. 5, No. 4, 1989, p. 894-898.

Research output: Contribution to journalArticle

Devoto, M, De Benedetti, L, Seia, M, Sereni, LP, Ferrari, M, Bonduelle, ML, Malfroot, A, Lissens, W, Balassopoulqu, A, Adam, G, Loukopoulos, D, Cochaux, P, Vassart, G, Szibor, R, Hein, J, Grade, K, Berger, W, Wainwright, B & Romeo, G 1989, 'Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations', Genomics, vol. 5, no. 4, pp. 894-898. https://doi.org/10.1016/0888-7543(89)90131-6
Devoto, M. ; De Benedetti, L. ; Seia, M. ; Sereni, L. Piceni ; Ferrari, M. ; Bonduelle, M. L. ; Malfroot, A. ; Lissens, W. ; Balassopoulqu, A. ; Adam, G. ; Loukopoulos, D. ; Cochaux, P. ; Vassart, G. ; Szibor, R. ; Hein, J. ; Grade, K. ; Berger, W. ; Wainwright, B. ; Romeo, G. / Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations. In: Genomics. 1989 ; Vol. 5, No. 4. pp. 894-898.
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AU - Sereni, L. Piceni

AU - Ferrari, M.

AU - Bonduelle, M. L.

AU - Malfroot, A.

AU - Lissens, W.

AU - Balassopoulqu, A.

AU - Adam, G.

AU - Loukopoulos, D.

AU - Cochaux, P.

AU - Vassart, G.

AU - Szibor, R.

AU - Hein, J.

AU - Grade, K.

AU - Berger, W.

AU - Wainwright, B.

AU - Romeo, G.

PY - 1989

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N2 - We examined the allele and haplotype frequencies of five polymorphic DNA markers in 355 European cystic fibrosis (CF) patients (from Belgium, the German Democratic Republic, Greece, and Italy) who were divided into two groups according to whether they were or not taking supplementary pancreatic enzymes. The level of linkage disequilibrium between each polymorphism and the CF mutation varied among the different populations; there was no significant association between KM.19 and CF in the Greek population. The distributions of alleles and haplotypes derived from the polymorphisms revealed by probes KM.19 and XV.2c were always different in patients with or without pancreatic insufficiency (PI) in all the populations studied. In particular, among 32 patients without PI, only 9 (or 28%) were homozygous for the KM.19-XV.2c = 2-1 haplotype (which was present in 73% of all the CF chromosomes in our sample) compared to 162 of 252 patients (or 64%) with PI. These findings are consistent with the hypothesis that pancreatic insufficiency or sufficiency may be determined by different mutations at the CF locus.

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