Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations.
Cystic fibrosis (CF) patients with the A455E mutation, in both the French Canadian and the Dutch population, share a common haplotype over distances of up to 25 cM. French Canadian patients with the 621+1G-->T mutation share a common haplotype of more than 14 cM. In contrast, haplotypes containing the delta F508 mutation show haplotype identity over a much shorter genomic distance within and between populations, probably because of the multiple introduction of this most common mutation. Haplotype analysis for specific mutations in CF or in other recessive diseases can be used as a model for studying the occurrence of genetic drift conditional on gene frequencies. Moreover, from our results, it can be inferred that analysis of shared haplotypes is a suitable method for genetic mapping in general.
de Vries
H G
HG
Department of Medical Genetics, University of Groningen, The Netherlands.
van der Meulen
M A
MA
Rozen
R
R
Halley
D J
DJ
Scheffer
H
H
ten Kate
L P
LP
Buys
C H
CH
te Meerman
G J
GJ
D001483:Base Sequence; D002874:Chromosome Mapping; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D017931:DNA Primers; D004276:DNA, Satellite; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation
C505032:CFTR protein, human; D017931:DNA Primers; D004276:DNA, Satellite; D019005:Cystic Fibrosis Transmembrane Conductance Regulator