Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

Details

Serval ID
serval:BIB_34E8E01E9EFA
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11
Journal
Nature Genetics
Author(s)
Carrier  L., Hengstenberg  C., Beckmann  J. S., Guicheney  P., Dufour  C., Bercovici  J., Dausse  E., Berebbi-Bertrand  I., Wisnewsky  C., Pulvenis  D., Fetler  L., Vignal  A., Weissenbach  J., Hillaire  D., Feingold  J., Bouhour  J.B., Hagege  A., Desnos  M., Isnard  R., Dubourg  O., Komajda  M., Schwartz  K.
ISSN
1061-4036 (Print)
Publication state
Published
Issued date
07/1993
Volume
4
Number
3
Pages
311-3
Notes
Journal Article Research Support, Non-U.S. Gov't --- Old month value: Jul
Abstract
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.
Keywords
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
Create date
25/01/2008 16:18
Last modification date
20/08/2019 13:21
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