Skip to main content
Log in

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

  • Original investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

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-ΔF508 mutations was associated with a single haplotype: 1078delT with 16-31-13, G551D 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 ΔF508 chromosomes are the same as those found in Ireland, Spain, and Italy. This suggests that some haplotypes, associated or not with the ΔF508 mutation, were present in an ancestral population from which all four populations descended.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Author information

Authors and Affiliations

Authors

Additional information

Received: 27 November 1995 / Revised: 1 February 1996

Rights and permissions

Reprints and permissions

About this article

Cite this article

Braekeleer, M., Chaventré, A., Bertorelle, G. et al. Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany. Hum Genet 98, 223–227 (1996). https://doi.org/10.1007/s004390050196

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s004390050196

Keywords

Navigation