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PMID: 2565082 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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 ·1989-05-00 ·Pages 704-10

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

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 MspI 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.

MeSH Terms
Chromosome Mapping Chromosomes, Human, Pair 7 Cosmids Cystic Fibrosis/genetics Genetic Linkage Haplotypes Humans Polymorphism, Restriction Fragment Length
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Estivill X
Molecular Genetics Unit, Fundació d'Investigació Santa Creu i Sant Pau, Barcelona, Spain.
McLean C
Nunes V
Casals T
Gallano P
Scambler P
Williamson R
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1989-05-00
Pages
704-10
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1715644
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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