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. 1996 Jan 15;97(2):528-32.
doi: 10.1172/JCI118445.

Mapping a cardiomyopathy locus to chromosome 3p22-p25

T M Olson  1 , M T Keating
Affiliations

Mapping a cardiomyopathy locus to chromosome 3p22-p25

T M Olson et al. J Clin Invest. .

Abstract

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.

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