Mapping a cardiomyopathy locus to chromosome 3p22-p25

Dilated cardiomyopathy (DCM) is a common disorder characterized by cardiac dilation and reduced systolic function. To identify a cardiomyopathy gene, we studied a family with DCM associated with sinus node dysfunction, supraventricular tachyarrhythmias, conduction delay, and stroke. A general linkag...

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Bibliographic Details
Published in:	The Journal of clinical investigation Vol. 97; no. 2; pp. 528 - 532
Main Authors:	Olson, T M, Keating, M T
Format:	Journal Article
Language:	English
Published:	United States 15-01-1996
Subjects:	Cardiomyopathy, Dilated - genetics Chromosomes, Human, Pair 3 Female Genetic Linkage Genetic Markers Humans Male Pedigree Phenotype
Online Access:	Get full text
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Summary:	Dilated cardiomyopathy (DCM) is a common disorder characterized by cardiac dilation and reduced systolic function. To identify a cardiomyopathy gene, we studied a family with DCM associated with sinus node dysfunction, supraventricular tachyarrhythmias, conduction delay, and stroke. A general linkage approach was used to localize the disease gene in this family. Linkage to D3S2303 was identified with a two-point lod score of 6.09 at a recombination fraction of 0.00. Haplotype analyses mapped this locus to a 30 cM region of chromosome 3p22-p25, excluding candidate genes encoding a G-protein (GNAI2), calcium channel (CACNL1A2), sodium channel (SCN5A), and inositol triphosphate receptor (ITPR1). These data indicate that a gene causing DCM associated with rhythm and conduction abnormalities is located on chromosome 3p, and represent the first step toward disease gene identification.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	0021-9738
DOI:	10.1172/jci118445