title: Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11.
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.
authors.affiliation: INSERM U127, Hôpital Lariboisière, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Carrier
authors.forename: C
authors.initials: C
authors.lastname: Hengstenberg
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
authors.forename: P
authors.initials: P
authors.lastname: Guicheney
authors.forename: C
authors.initials: C
authors.lastname: Dufour
authors.forename: J
authors.initials: J
authors.lastname: Bercovici
authors.forename: E
authors.initials: E
authors.lastname: Dausse
authors.forename: I
authors.initials: I
authors.lastname: Berebbi-Bertrand
authors.forename: C
authors.initials: C
authors.lastname: Wisnewsky
authors.forename: D
authors.initials: D
authors.lastname: Pulvenis
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers; D009838:Oligodeoxyribonucleotides