Mapping a cardiomyopathy locus to chromosome 3p22-p25

J Clin Invest. 1996 Jan 15;97(2):528-32. doi: 10.1172/JCI118445.

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 (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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cardiomyopathy, Dilated / genetics*
  • Chromosomes, Human, Pair 3*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Pedigree
  • Phenotype

Substances

  • Genetic Markers