Home LiteratureArticle Details
PMID: 2999612 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Localization of cystic fibrosis locus to human chromosome 7cen-q22.

Nature ·Vol. 318 ·No. 6044 ·1985-00-00 ·Pages 384-5

Wainwright BJ, Scambler PJ, Schmidtke J, Watson EA, Law HY, Farrall M, Cooke HJ, Eiberg H, Williamson R

Abstract

Cystic fibrosis (CF) is the most common genetic disease in Caucasian populations, with an incidence of 1 in 2,000 live births in the United Kingdom, and a carrier frequency of approximately 1 in 20. The biochemical basis of the disease is not known, although membrane transport phenomena associated with CF have been described recently. Consanguinity studies have shown that the inheritance of CF is consistent with it being a recessive defect caused by a mutation at a single autosomal locus. Eiberg et al. have reported a genetic linkage between the CF locus and a polymorphic locus controlling activity of the serum aryl esterase paraoxonase (PON). The chromosomal location of PON, however, is not known. Linkage to a DNA probe, DOCR1-917, was also recently found at a genetic distance of approximately 15 centimorgans (L.-C. Tsui and H. Donnis-Keller, personal communication), but no chromosomal localization was given. Here we report tight linkage between the CF locus and an anonymous DNA probe, pJ3.11, which has been assigned to chromosome 7cen-q22.

MeSH Terms
Chromosome Mapping Chromosomes, Human, 6-12 and X Cystic Fibrosis/genetics DNA Restriction Enzymes Genetic Linkage Humans Pedigree Polymorphism, Genetic Receptors, Antigen, T-Cell/genetics
Chemicals
Receptors, Antigen, T-Cell DNA Restriction Enzymes
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Wainwright B J
Scambler P J
Schmidtke J
Watson E A
Law H Y
Farrall M
Cooke H J
Eiberg H
Williamson R
Article Info
Journal
Nature
Abbr.
Nature
ISSN
0028-0836
Published
1985-00-00
Pages
384-5
Language
English
Region
England
NLM ID
0410462
Subset
IM
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