Mapping a cardiomyopathy locus to chromosome 3p22-p25.

TM Olson, MT Keating - The Journal of clinical investigation, 1996 - Am Soc Clin Investig
TM Olson, MT Keating
The Journal of clinical investigation, 1996Am Soc Clin Investig
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 …
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.
The Journal of Clinical Investigation