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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 p myosin heavy chain (β–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 β–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.

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Carrier, L., Hengstenberg, C., Beckmann, J. et al. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet 4, 311–313 (1993). https://doi.org/10.1038/ng0793-311

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