Exclusion of genes coding for proteins of the cytoskeleton and the extracellular matrix in familial hypertrophic cardiomyopathy using a candidate gene approach
Details
Serval ID
serval:BIB_CDE4D50474A1
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Exclusion of genes coding for proteins of the cytoskeleton and the extracellular matrix in familial hypertrophic cardiomyopathy using a candidate gene approach
Journal
Comptes Rendus de l'Academie des Sciences. Serie III, Sciences de la Vie
ISSN
0764-4469 (Print)
Publication state
Published
Issued date
1993
Volume
316
Number
5
Pages
474-81
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, Non-U.S. Gov't
Abstract
Familial hypertrophic cardiomyopathy (FHC), a primary cardiac pathology, is a genetically heterogeneous disease, with autosomal dominant inheritance. The first gene identified as responsible for FHC codes for beta-myosin heavy chain (beta-MHC). To find a second locus, a candidate gene approach was applied on two families for which the beta-MHC locus was excluded. Selection of candidate genes is based on the observation of tissular and cellular disorganisation in FHC, and included genes coding for proteins involved in human myocardium architecture: the extracellular matrix components and cytoskeleton proteins. Chromosomal areas containing the candidate genes were examined by linkage analysis with microsatellite markers. The genes coding for different types of collagens, laminins, fibronectin, fibrillins, desmin, titin, alpha-actinin, vinculin, cardiac and skeletal alpha-actins, ankyrin and spectrin were excluded as responsible for FHC.
Keywords
Cardiomyopathy, Hypertrophic/*genetics
Chromosome Mapping
Cytoskeletal Proteins/*genetics
Extracellular Matrix Proteins/*genetics
Genetic Code
Genetic Markers
Humans
Linkage (Genetics)
Pubmed
Web of science
Create date
25/01/2008 17:17
Last modification date
20/08/2019 16:48