Mise en evidence d'un cinquieme locus implique dans les cardiomyopathies hypertrophiques familiales. [Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]

Details

Serval ID
serval:BIB_01A07F943488
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mise en evidence d'un cinquieme locus implique dans les cardiomyopathies hypertrophiques familiales. [Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]
Journal
Archives des Maladies du Coeur et des Vaisseaux
Author(s)
Hengstenberg  C., Charron  P., Isnard  R., Beckmann  J. S., Fetler  L., Desnos  M., Hagege  A., Bouhour  J. B., Souriant  G., Dubourg  O., Schwartz K., Komajda M.
ISSN
0003-9683 (Print)
Publication state
Published
Issued date
12/1994
Volume
87
Number
12
Pages
1655-62
Notes
English Abstract Journal Article Research Support, Non-U.S. Gov't --- Old month value: Dec
Abstract
Hypertrophic cardiomyopathy is familial in about 50% of cases and is transmitted in the autosomal dominant mode. The first morbid gene implicated in the disease was the gene coding the beta myosin heavy chain (beta MHC) on chromosome 14. However, only 30% of families have this genetic abnormality. Recently, three new loci have been identified on chromosomes 1q3, 11p13-q13 and 15q2. In order to determine whether other genes could be implicated in the disease a linkage analysis study was performed in a West Indian family. The method is based on the analysis of the distribution of the disease in the family and the microsatellite markers. The microsatellites used were those which recognised the 4 loci previously mentioned and 4 new markers situated and arranged with respect to known microsatellites. The results show that in the family studied, the disease did not concord with the markers of the beta MHC gene or with those recognising the loci on chromosomes 1q3, 11p13-q13 and 15q2. There is, therefore, a fifth gene implicated in familial HCM. The heterogeneity of the disease seems even greater than originally thought.
Keywords
Adult Aged Aged, 80 and over Cardiomyopathy, Hypertrophic/*genetics/physiopathology/ultrasonography *Chromosome Mapping Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 15 Electrocardiography Female Genetic Markers Humans Male Middle Aged Molecular Biology Pedigree
Pubmed
Web of science
Create date
25/01/2008 16:17
Last modification date
20/08/2019 12:23
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