Patterns of polymorphism and linkage disequilibrium for cystic fibrosis

Xavier P. Estivill, P. J. Scambler, B. J. Wainwright, K. Hawley, P. Frederick, M. Schwartz, M. Baiget, J. Kere, R. Williamson, M. Farrall

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Four polymorphic markers that map within 80 kb of an HTF island which is genetically very close to the cystic fibrosis locus have been identified. We have analyzed the linkage disequilibrium between each of these markers and the cystic fibrosis mutation in 89 families from four European countries, Denmark, Finland, Spain, and Great Britain. Strong linkage disequilibrium between three polymorphic sites and cystic fibrosis was observed. The markers on the J3.11 (D7S8) side of the HTF island show stronger disequilibrium than those on the met side. Linkage disequilibrium between markers and disease alters the probability that a person of a given haplotype is a carrier is some populations and helps to identify regions of a sequence that are most likely to contain the cystic fibrosis mutation.

Original languageEnglish
Pages (from-to)257-263
Number of pages7
Issue number3
Publication statusPublished - 1987
Externally publishedYes


ASJC Scopus subject areas

  • Genetics

Cite this

Estivill, X. P., Scambler, P. J., Wainwright, B. J., Hawley, K., Frederick, P., Schwartz, M., Baiget, M., Kere, J., Williamson, R., & Farrall, M. (1987). Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics, 1(3), 257-263.