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 (SCNSA), 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.
Original language | English (US) |
---|---|
Pages (from-to) | 528-532 |
Number of pages | 5 |
Journal | Journal of Clinical Investigation |
Volume | 97 |
Issue number | 2 |
DOIs | |
State | Published - Jan 15 1996 |
Keywords
- arrhythmia
- cardiomyopathy, congestive
- heart conduction system
- linkage (genetics)
- sinoatrial node
ASJC Scopus subject areas
- General Medicine