@article{3079403,
    title = "Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations",
    author = "Devoto, M. and De Benedetti, L. and Seia, M. and Sereni, L.P. and Ferrari, M. and Bonduelle, M.L. and Malfroot, A. and Lissens, W. and Balassopoulqu, A. and Adam, G. and Loukopoulos, D. and Cochaux, P. and Vassart, G. and Szibor, R. and Hein, J. and Grade, K. and Berger, W. and Wainwright, B. and Romeo, G.",
    journal = "LIFESTYLE GENOMICS",
    year = "1989",
    volume = "5",
    number = "4",
    pages = "894-898",
    doi = "10.1016/0888-7543(89)90131-6",
    keywords = "allele;  article;  Belgium;  cystic fibrosis;  female;  gene linkage disequilibrium;  genetics;  German Democratic Republic;  Greece;  haplotype;  human;  Italy;  male;  mutation;  pancreas insufficiency;  restriction fragment length polymorphism, Alleles;  Belgium;  Cystic Fibrosis;  Female;  Germany, East;  Greece;  Haplotypes;  Human;  Italy;  Linkage Disequilibrium;  Male;  Mutation;  Pancreatic Insufficiency;  Polymorphism, Restriction Fragment Length;  Support, Non-U.S. Gov't",
    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. © 1989."
}