Mapping a cardiomyopathy locus to chromosome 3p22-p25

Timothy M. Olson, Mark T. Keating

Research output: Contribution to journalArticle

165 Scopus citations

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 languageEnglish (US)
Pages (from-to)528-532
Number of pages5
JournalJournal of Clinical Investigation
Volume97
Issue number2
DOIs
StatePublished - Jan 15 1996

Keywords

  • arrhythmia
  • cardiomyopathy, congestive
  • heart conduction system
  • linkage (genetics)
  • sinoatrial node

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Mapping a cardiomyopathy locus to chromosome 3p22-p25'. Together they form a unique fingerprint.

  • Cite this