Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11
Détails
ID Serval
serval:BIB_34E8E01E9EFA
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11
Périodique
Nature Genetics
ISSN
1061-4036 (Print)
Statut éditorial
Publié
Date de publication
07/1993
Volume
4
Numéro
3
Pages
311-3
Notes
Journal Article Research Support, Non-U.S. Gov't --- Old month value: Jul
Résumé
Familial hypertrophic cardiomyopathy (FHC) is a cardiac disorder transmitted as an autosomal dominant trait. FHC has been shown to be genetically heterogeneous with less than 50% of published pedigrees being associated with mutations in the beta myosin heavy chain (beta-MHC) gene on chromosome 14q11-q12. A second locus has recently been reported on chromosome 1. We examined the segregation of microsatellite markers in a French pedigree for which the disease is not linked to beta-MHC gene. We found significant linkage of the disease locus to several (CA)n repeats located on chromosome 11 (lod scores between +3.3 and +4.98). The data suggest the localization of the novel FHC gene in a region spanning 17 centiMorgans.
Mots-clé
Cardiomyopathy, Hypertrophic/*genetics Chromosome Mapping *Chromosomes, Human, Pair 11 DNA, Satellite/genetics Female Genetic Markers Humans Linkage (Genetics) Male Oligodeoxyribonucleotides/genetics Pedigree Polymorphism, Genetic Repetitive Sequences, Nucleic Acid
Pubmed
Web of science
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 13:21