A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16

Details

Serval ID
serval:BIB_CC797BFD7F5D
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16
Journal
American Journal of Human Genetics
Author(s)
Sylvius  N., Tesson  F., Gayet  C., Charron  P., Benaiche  A., Peuchmaurd  M., Duboscq-Bidot  L., Feingold  J., Beckmann  J. S., Bouchier  C., Komajda  M.
ISSN
0002-9297 (Print)
Publication state
Published
Issued date
01/2001
Volume
68
Number
1
Pages
241-6
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jan
Abstract
Dilated cardiomyopathy (DCM) is a heart-muscle disease characterized by ventricular dilatation and impaired heart contraction and is heterogeneous both clinically and genetically. To date, 12 candidate disease loci have been described for autosomal dominant DCM. We report the identification of a new locus on chromosome 6q12-16 in a French family with 9 individuals affected by the pure form of autosomal dominant DCM. This locus was found by using a genomewide search after exclusion of all reported disease loci and genes for DCM. The maximum pairwise LOD score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. Haplotype construction delineated a region of 16.4 cM between markers D6S1627 and D6S1716. This locus does not overlap with two other disease loci that have been described in nonpure forms of DCM and have been mapped on 6q23-24 and 6q23. The phospholamban, malic enzyme 1-soluble, and laminin-alpha4 genes were excluded as candidate genes, using single-strand conformation polymorphism or linkage analysis.
Keywords
Adolescent Adult Aged Calcium-Binding Proteins/genetics Cardiomyopathy, Dilated/*genetics Chromosome Mapping Chromosomes, Human, Pair 6/*genetics Female France Genes, Dominant/*genetics Genetic Markers/genetics Haplotypes/genetics Humans Laminin/genetics Lod Score Malate Dehydrogenase/genetics Male Middle Aged Molecular Sequence Data Pedigree Polymorphism, Single-Stranded Conformational Recombination, Genetic/genetics Solubility
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 16:18
Last modification date
20/08/2019 15:47
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