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 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.
Olson
T M
TM
Division of Pediatric Cardiology, Primary Children's Medical Center, University of Utah Health Sciences Center, Salt Lake City 84112, USA.
Keating
M T
MT
D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
D005819:Genetic Markers