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

X Estivill; M Farrall; P J Scambler; G M Bell; K M Hawley; N J Lench; G P Bates; H C Kruyer; P A Frederick; P Stanier

doi:10.1038/326840a0

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

Nature. 1987;326(6116):840-5. doi: 10.1038/326840a0.

Authors

X Estivill, M Farrall, P J Scambler, G M Bell, K M Hawley, N J Lench, G P Bates, H C Kruyer, P A Frederick, P Stanier, et al.

PMID: 2883581
DOI: 10.1038/326840a0

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.

Publication types

Research Support, Non-U.S. Gov't

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*

Substances

Blood Proteins
Calgranulin A
Genetic Markers
cystic fibrosis serum factor