Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany

Hum Genet. 1996 Aug;98(2):223-7. doi: 10.1007/s004390050196.


Microsatellite haplotypes were determined for 117 chromosomes carrying the four most frequent mutations in the cystic fibrosis (CF) gene identified in the Breton population of Celtic origin, as well as for 83 normal chromosomes (noncarriers of a CF mutation). Each of the three non-delta F508 mutations was associated with a single haplotype: 1078deIT with 16-31-13, G55ID with 16-7-17, and W846X with 16-32-13. Although these results suggest identity-by-descent for each mutation, recurrent mutations, although unlikely, could not be completely ruled out. The four most frequent haplotypes on normal chromosomes and the three most frequent haplotypes on delta F508 chromosomes are the same as those found in Ireland, Spain, and Italy. This suggests that some haplotypes, associated or not with the delta F508 mutation, were present in an ancestral population from which all four populations descended.

MeSH terms

  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Ethnicity / genetics
  • France / epidemiology
  • Gene Frequency
  • Haplotypes
  • Humans
  • Ireland / epidemiology
  • Ireland / ethnology
  • Italy / epidemiology
  • Linkage Disequilibrium*
  • Microsatellite Repeats*
  • Mutation*
  • Spain / epidemiology


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator