A LOCUS FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY IS CLOSELY LINKED TO THE CARDIAC MYOSIN HEAVY-CHAIN GENES, CRI-L436, AND CRI-L329 ON CHROMOSOME-14 AT Q11-Q12

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  • 1 September 1990
    • journal article
    • research article
    • Vol. 47  (3) , 389-394
Abstract
We report that a gene responsible for familial hypertrophic cardiomyopathy (HC) is closely linked to the cardiac .alpha. and .beta. myosin heavy chain (MHC) genes on chromosome 14q11. We have recently shown that probe CRI-L436, derived from the anonymous DNA locus D14S26, detects a polymorphic restriction fragment that segregates with familial HC in affected members of a large Canadian family. Using chromosomal in situ hybridization, we have mapped CRI-L436 to chromosome 14 at q11-q12. Because the cardiac MHC genes also map to this chromosomal bands, we have determined the genetic distances between the cardiac .beta. MHC gene, D14S26, and the familial HC locus. Data presented here show that these three loci are linked within 5 centimorgans on chromosome 14 at q11-q12. The possibility that defects in either the cardiac .alpha. or .beta. MHC genes are responsible for familial HC is discussed.