Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations
| Autor: | W. Berger, Dimitris Loukopoulos, G. Adam, R. Szibor, Gilbert Vassart, Giovanni Romeo, Anne Malfroot, Maurizio Ferrari, Mary-Louise Bonduelle, Marcella Devoto, K. Grade, L. De Benedetti, Manuela Seia, L. Piceni Sereni, Pascale Cochaux, Brandon J. Wainwright, J. Hein, A. Balassopoulqu, Willy Lissens |
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| Rok vydání: | 1989 |
| Předmět: |
Male
Linkage disequilibrium Cystic Fibrosis Locus (genetics) Biology Cystic fibrosis Linkage Disequilibrium Belgium Genetics medicine Humans In patient Allele Alleles Greece Haplotype medicine.disease Haplotypes Italy Genetic marker Mutation Exocrine Pancreatic Insufficiency Female Germany East Pancreatic enzymes Polymorphism Restriction Fragment Length |
| Zdroj: | Genomics. 5:894-898 |
| ISSN: | 0888-7543 |
| DOI: | 10.1016/0888-7543(89)90131-6 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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