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PMID: 2879439 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Linkage of DNA markers to cystic fibrosis in 26 families.

American journal of human genetics ·Vol. 39 ·No. 6 ·1986-12-00 ·Pages 729-34

Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL

Abstract

Two DNA markers, the met oncogene and the anonymous probe, pJ3.11, previously reported to be tightly linked to cystic fibrosis (CF), were used for linkage analysis in 26 families with two or more individuals affected with CF. A new high frequency polymorphism was identified using BanI and the pmetD probe. The results of linkage analysis were as follows: between met and CF, lod score of 18.2 at theta of .009; between pJ3.11 and CF, lod score of 12.1 at theta of 0; and between met and pJ3.11, lod score of 16.7 at theta of 0. These data indicate that most or all of CF is due to an abnormality at a single locus and that the DNA markers are useful for prenatal diagnosis and heterozygote detection within affected families.

MeSH Terms
Cystic Fibrosis/genetics DNA/genetics DNA Restriction Enzymes Female Genetic Linkage Genetic Markers Humans Male Oncogenes Pedigree Polymorphism, Restriction Fragment Length
Chemicals
Genetic Markers DNA DNA Restriction Enzymes
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Spence J E
Rosenbloom C L
O'Brien W E
Seilheimer D K
Cole S
Ferrell R E
Stern R C
Beaudet A L
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1986-12-00
Pages
729-34
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684125
Subset
IM
Grants
NIADDK NIH HHS · F32 AM07637 · United States
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