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PMID: 7611301 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium.

American journal of human genetics ·Vol. 57 ·No. 1 ·1995-07-00 ·Pages 95-102

Höglund P, Sistonen P, Norio R, Holmberg C, Dimberg A, Gustavson KH, de la Chapelle A, Kere J

Abstract

Congenital chloride diarrhea is a recessively inherited intestinal disorder affecting electrolyte transportation. The clinical presentation is a life-threatening watery diarrhea with a high chloride content. Recently, the congenital chloride diarrhea gene (CLD) was assigned to chromosome 7 by linkage in eight Finnish families. In the present study, refined mapping of CLD was performed by studying linkage and linkage disequilibrium in 24 Finnish and 4 Swedish families. Recombination mapping assigned CLD to an approximately 10-cM region flanked by D7S515 and D7S799. Linkage disequilibrium was detected over this large genetic region, with the strongest allelic association at D7S496. Application of the Luria and Delbrück-derived analysis allowed for a further narrowing of the CLD region to approximately 0.37 cM from the marker D7S496. Haplotype analysis placed CLD unequivocally between D7S501 and D7S692, very close to D7S496 and most likely on the distal side of D7S496. This combined analytical approach allowed highly accurate mapping of CLD, each component adding complementary and consistent mapping information.

Related Genes
CLD
MeSH Terms
Child Chlorides/metabolism Chromosome Mapping Chromosomes, Human, Pair 7/genetics Cluster Analysis DNA/analysis Diarrhea/congenital,genetics Female Finland/epidemiology Haplotypes Humans Linkage Disequilibrium/genetics Lod Score Male Polymerase Chain Reaction Polymorphism, Genetic
Chemicals
Chlorides DNA
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Höglund P
Department of Medical Genetics, University of Helsinki, Finland.
Sistonen P
Norio R
Holmberg C
Dimberg A
Gustavson K H
de la Chapelle A
Kere J
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1995-07-00
Pages
95-102
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1801227
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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