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

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.

journal_name

Genomics

journal_title

Genomics

authors

Devoto M,De Benedetti L,Seia M,Piceni Sereni L,Ferrari M,Bonduelle ML,Malfroot A,Lissens W,Balassopoulou A,Adam G

doi

10.1016/0888-7543(89)90131-6

subject

Has Abstract,Author List Incomplete

pub_date

1989-11-01 00:00:00

pages

894-8

issue

4

eissn

0888-7543

issn

1089-8646

journal_volume

5

pub_type

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