Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP

Xavier P. Estivill, C. McLean, V. Nunes, T. Casals, P. Gallano, P. Scambler, R. Williamson

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

A cosmid library of recombinants containing nonmethylated CpG sites for rare-cutter restriction enzymes was used previously to isolate the gene IRP and four polymorphic DNA markers (pPT-3, pXV-2c, pCS.7, and pKM.19) which are close to and in linkage disequilibrium with the cystic fibrosis (CF) mutation. We have analyzed several new clones from the same library and have isolated a further cosmid, cNX.6d, which maps approximately 160 kb from CS.7, in the J3.11 direction. A DNA fragment (pMP6d-9) (D7S399) derived from cosmid cNX.6d detects a frequent polymorphism with MspI. Strong linkage disequilibrium between CF and MP6d-9 is found in European populations. Recombinations in two families suggest that CF is between the Mspl polymorphic site recognized by pMP6d-9 and the polymorphism recognized by pJ3.11. The new marker is the closest, to date, to CF and will be useful for prenatal diagnosis and carrier testing.

Original languageEnglish
Pages (from-to)704-710
Number of pages7
JournalAmerican Journal of Human Genetics
Volume44
Issue number5
Publication statusPublished - 1989
Externally publishedYes

Fingerprint

Linkage Disequilibrium
Genetic Markers
Cystic Fibrosis
Cosmids
Prenatal Diagnosis
Genetic Recombination
Libraries
Clone Cells
Mutation
DNA
Enzymes
Population
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP. / Estivill, Xavier P.; McLean, C.; Nunes, V.; Casals, T.; Gallano, P.; Scambler, P.; Williamson, R.

In: American Journal of Human Genetics, Vol. 44, No. 5, 1989, p. 704-710.

Research output: Contribution to journalArticle

Estivill, XP, McLean, C, Nunes, V, Casals, T, Gallano, P, Scambler, P & Williamson, R 1989, 'Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP', American Journal of Human Genetics, vol. 44, no. 5, pp. 704-710.
Estivill, Xavier P. ; McLean, C. ; Nunes, V. ; Casals, T. ; Gallano, P. ; Scambler, P. ; Williamson, R. / Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP. In: American Journal of Human Genetics. 1989 ; Vol. 44, No. 5. pp. 704-710.
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AU - Casals, T.

AU - Gallano, P.

AU - Scambler, P.

AU - Williamson, R.

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