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Research Article Free access | 10.1172/JCI118445
Division of Pediatric Cardiology, Primary Children's Medical Center, University of Utah Health Sciences Center, Salt Lake City 84112, USA.
Find articles by Olson, T. in: JCI | PubMed | Google Scholar
Division of Pediatric Cardiology, Primary Children's Medical Center, University of Utah Health Sciences Center, Salt Lake City 84112, USA.
Find articles by Keating, M. in: JCI | PubMed | Google Scholar
Published January 15, 1996 - More info
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.