Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci

Abstract

The linkage relationships between the cystic fibrosis (CF) locus and four marker loci (MET-H, MET-D, D7S8 and D7S16), allelic associations between these loci and the extent of informativity at these marker loci were investigated in a sample of 206 families with at least one child affected by CF. The data were contributed by 11 laboratories from Europe and Israel. The maximum lod scores and recombination frequency estimates (luminal diameter) (and confidence limits of luminal diameter) were: 18.3 at luminal diameter = 0.007 (0.001-0.038) for CF vs. MET, 11.0 at luminal diameter = 0.016 (0.001-0.068) for CF vs. D7S8, and 5.7 at luminal diameter = 0.0 (0.0-0.064) for CF vs. D7S16. A gene order of CF-MET-D7S8 was best supported by the data, but its preference to the order D7S8-CF-MET is mainly based on one single family. There are significant allelic associations between CF, MET, D7S8 and D7S16; these allelic associations affect the risk of random individuals to be carriers of CF.