Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Mapping a cardiomyopathy locus to chromosome 3p22-p25.

Authors: Olson, TM  Keating, MT 
Citation: Olson TM and Keating MT, J Clin Invest 1996 Jan 15;97(2):528-32.
Pubmed: (View Article at PubMed) PMID:8567977
DOI: Full-text: DOI:10.1172/JCI118445

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.


Disease Annotations
Objects Annotated

Additional Information

CRRD Object Information
CRRD ID: 1556475
Created: 2005-10-28
Species: All species
Last Modified: 2005-10-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.