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

Research output: Contribution to journalArticle

106 Citations (Scopus)

Abstract

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
JournalGenomics
Volume1
Issue number3
DOIs
Publication statusPublished - 1987
Externally publishedYes

Fingerprint

Linkage Disequilibrium
Cystic Fibrosis
Islands
Mutation
Denmark
Finland
Spain
Haplotypes
Population

ASJC Scopus subject areas

  • Genetics

Cite this

Estivill, X. P., Scambler, P. J., Wainwright, B. J., Hawley, K., Frederick, P., Schwartz, M., ... Farrall, M. (1987). Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics, 1(3), 257-263. https://doi.org/10.1016/0888-7543(87)90052-8

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. / Estivill, Xavier P.; Scambler, P. J.; Wainwright, B. J.; Hawley, K.; Frederick, P.; Schwartz, M.; Baiget, M.; Kere, J.; Williamson, R.; Farrall, M.

In: Genomics, Vol. 1, No. 3, 1987, p. 257-263.

Research output: Contribution to journalArticle

Estivill, XP, Scambler, PJ, Wainwright, BJ, 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, vol. 1, no. 3, pp. 257-263. https://doi.org/10.1016/0888-7543(87)90052-8
Estivill XP, Scambler PJ, Wainwright BJ, Hawley K, Frederick P, Schwartz M et al. Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics. 1987;1(3):257-263. https://doi.org/10.1016/0888-7543(87)90052-8
Estivill, Xavier P. ; Scambler, P. J. ; Wainwright, B. J. ; Hawley, K. ; Frederick, P. ; Schwartz, M. ; Baiget, M. ; Kere, J. ; Williamson, R. ; Farrall, M. / Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. In: Genomics. 1987 ; Vol. 1, No. 3. pp. 257-263.
@article{edceadabedc5489ab0fb72a44ed43f4a,
title = "Patterns of polymorphism and linkage disequilibrium for cystic fibrosis",
abstract = "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.",
author = "Estivill, {Xavier P.} and Scambler, {P. J.} and Wainwright, {B. J.} and K. Hawley and P. Frederick and M. Schwartz and M. Baiget and J. Kere and R. Williamson and M. Farrall",
year = "1987",
doi = "10.1016/0888-7543(87)90052-8",
language = "English",
volume = "1",
pages = "257--263",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "3",

}

TY - JOUR

T1 - Patterns of polymorphism and linkage disequilibrium for cystic fibrosis

AU - Estivill, Xavier P.

AU - Scambler, P. J.

AU - Wainwright, B. J.

AU - Hawley, K.

AU - Frederick, P.

AU - Schwartz, M.

AU - Baiget, M.

AU - Kere, J.

AU - Williamson, R.

AU - Farrall, M.

PY - 1987

Y1 - 1987

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0023446123&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023446123&partnerID=8YFLogxK

U2 - 10.1016/0888-7543(87)90052-8

DO - 10.1016/0888-7543(87)90052-8

M3 - Article

C2 - 2895728

AN - SCOPUS:0023446123

VL - 1

SP - 257

EP - 263

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 3

ER -