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PMID: 1975475 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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.

American journal of human genetics ·Vol. 47 ·No. 3 ·1990-09-00 ·Pages 389-94

Solomon SD, Geisterfer-Lowrance AA, Vosberg HP, Hiller G, Jarcho JA, Morton CC, McBride WO, Mitchell AL, Bale AE, McKenna WJ

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 band, 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.

MeSH Terms
Cardiomyopathy, Hypertrophic/genetics Chromosome Banding Chromosome Mapping Chromosomes, Human, Pair 14 Female Genes Genetic Linkage Humans Male Myocardium/metabolism Myosins/genetics Oligonucleotide Probes Pedigree Polymorphism, Restriction Fragment Length
Chemicals
Oligonucleotide Probes Myosins
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Solomon S D
Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115.
Geisterfer-Lowrance A A
Vosberg H P
Hiller G
Jarcho J A
Morton C C
McBride W O
Mitchell A L
Bale A E
McKenna W J
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1990-09-00
Pages
389-94
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683877
Subset
IM
Grants
NHLBI NIH HHS · 1F32-HL08096 · United States
NHLBI NIH HHS · HL42467 · United States
NHLBI NIH HHS · R29-HL41474 · United States
External Links
PubMed source PMC Full Text View journal details
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