Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families

Details

Serval ID
serval:BIB_B4DB7BF07223
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families
Journal
Circulation Research
Author(s)
Schwartz  K., Beckmann  J., Dufour  C., Faure  L., Fougerousse  F., Carrier  L., Hengstenberg  C., Cohen  D., Vosberg  H. P., Sacrez  A., Ferriere  M., Desnos  M., Cambien  F., Dubourg  O., Komajda  M.
ISSN
0009-7330 (Print)
Publication state
Published
Issued date
07/1992
Volume
71
Number
1
Pages
3-8
Notes
Journal Article Research Support, Non-U.S. Gov't --- Old month value: Jul
Abstract
Familial hypertrophic cardiomyopathy (FHC) is characterized by idiopathic myocardial hypertrophy, which often and predominantly involves the interventricular septum. The disease is transmitted as an autosomal dominant trait, and its major risk is sudden death. It was recently demonstrated that this disease is genetically heterogeneous and that in 13 of 18 unrelated families the morbid locus, termed FHC-1, maps to chromosome 14q11-12 in and/or very near the cardiac beta-myosin heavy chain gene. We have performed linkage analysis with five chromosomal markers detecting polymorphisms in either the cardiac beta-myosin heavy chain gene or the cardiac actin gene (located on chromosome 15q) on eight families from different regions of France. We show that 1) it is possible to analyze medium-sized families by using highly informative microsatellite markers located in these genes and 2) the disease is not linked to the two contractile protein genes in any of these families. Moreover, 10-20% of chromosome 14 and 20-40% of chromosome 15 in the vicinity of the respective markers were excluded as possible locations for the morbid locus. These results provide new insights into the identification of the genes responsible for FHC.
Keywords
Actins/*genetics Base Sequence Cardiomyopathy, Hypertrophic/*genetics France *Genes Humans Linkage (Genetics) Molecular Probes/genetics Molecular Sequence Data Myocardium/*metabolism Myosins/chemistry/*genetics Pedigree
Pubmed
Web of science
Create date
25/01/2008 16:17
Last modification date
20/08/2019 15:23
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