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PMID: 2883581 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.

Nature ·Vol. 326 ·No. 6116 ·1987-00-00 ·Pages 840-5

Estivill X, Farrall M, Scambler PJ, Bell GM, Hawley KM, Lench NJ, Bates GP, Kruyer HC, Frederick PA, Stanier P

Abstract

A genomic sequence close to the cystic fibrosis locus with the characteristics of an HTF island has been selectively cloned and characterized. Two markers flanking this sequence, which is conserved throughout mammalian evolution, show a very much greater disequilibrium than that found with any existing marker. A single mutational event accounts for most cases of cystic fibrosis. The sequence is expressed, and is a candidate for the cystic fibrosis gene.

MeSH Terms

Animals Base Sequence Blood Proteins/genetics Calgranulin A Chromosome Mapping Chromosomes, Human, Pair 7/ultrastructure Cystic Fibrosis/genetics Genetic Carrier Screening Genetic Linkage Genetic Markers Humans Hybrid Cells/ultrastructure Methylation Mice Polymorphism, Genetic Polymorphism, Restriction Fragment Length

Chemicals

Blood Proteins Calgranulin A Genetic Markers cystic fibrosis serum factor

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Estivill X

Farrall M

Scambler P J

Bell G M

Hawley K M

Lench N J

Bates G P

Kruyer H C

Frederick P A

Stanier P

Article Info

Journal

Nature

Abbr.

Nature

ISSN

0028-0836

DOI

10.1038/326840a0

Published

1987-00-00

Pages

840-5

Language

English

Region

England

NLM ID

0410462

Subset

External Links

PubMed source DOI: 10.1038/326840a0 View journal details

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A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.

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