Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Academic Article uri icon

Overview

abstract

  • BACKGROUND: Dilated cardiomyopathy, characterized by ventricular dilatation and decreased systolic contraction, is twofold to threefold more common as a cause of heart failure than hypertrophic cardiomyopathy and costs several billion dollars annually. The idiopathic form occurring early in life, with a 75% mortality in 5 years, is a common reason for transplantation. It is estimated that at least 20% of cases are familial. METHODS AND RESULTS: A family of 46 members spanning four generations underwent history and physical examinations, echocardiographic analysis, and blood sampling for genotyping. Diagnostic criteria, detected by echocardiography, consisted of ventricular dimension of > or = 2.7 cm/m2 with an ejection fraction < or = 50% in the absence of other potential causes. DNA from all members was analyzed by polymerase chain reaction for amplification of short tandem-repeat polymorphic markers located every 10 cM throughout the human genome. Assuming a penetrance of 90%, linkage analysis was performed to map the responsible chromosomal locus. Linkage analysis, after 412 markers were analyzed, indicated the locus to be on chromosome 1q32, with a peak multipoint logarithm of the odds score at D1S414 of 6.37. CONCLUSIONS: The locus identified in this study for familial dilated cardiomyopathy, 1q32, is rich in candidate genes, such as MEF-2, renin, and helix loop helix DNA binding protein MYF-4. Identification of the genetic defect could provide insight into the molecular basis for the cardiac dilatory response in both familial and acquired disorders.

authors

  • Quinones, Miguel A.
  • Durand, J B
  • Bachinski, L L
  • Bieling, L C
  • Czernuszewicz, G Z
  • Abchee, A B
  • Yu, Q T
  • Tapscott, Terry
  • Hill, Rita
  • Ifegwu, Jonah
  • Marian, A J

publication date

  • December 15, 1995

Research

keywords

  • Cardiomyopathy, Dilated
  • Chromosomes, Human, Pair 1

Identity

Scopus Document Identifier

  • 0028801254

Digital Object Identifier (DOI)

  • 10.1161/01.cir.92.12.3387

PubMed ID

  • 8521556

Additional Document Info

volume

  • 92

issue

  • 12