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European Heart Journal 1994 15(Supplement D):20-23; doi:10.1093/eurheartj/15.suppl_D.20
Copyright © 1994 by the European Society of Cardiology.
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© 1994 The European Society of Cardiology

Identification of Gene Defects by Linkage Analysis: Use in Inherited Cardiomyopathies

H. P. Vosberg

Max-Planck-Institut for Physiological and Clinical Research, Department of Experimental Cardiology Bad Nauheim, Germany

Correspondence: Dr Hans-Peter Vosberg, Max-Planck-Institut für physiologische und klinische Forschung, Abteilung Experimentelle Kardiologie. Benekestr. 2. D-61231 Bad Nauheim, Germany

One of the central activities of current medical (including cardiological) research is identification of the causes of inherited diseases. The goals are the determination of genes and risk factors, introduction of new diagnostic standards and ultimately refinement of therapies. In cardiac disorders, molecular causes have been detected for certain types of hypertrophic cardiomyopathy (HCM), a disease characterized by increased ventricular wall thickness, a high risk of arrhythmias and an increased frequency of sudden cardiac death. The first known cause of HCM was a point mutation in the cardiac β-myosin heavy chain gene on chromosome 14, detected using a genetic mapping procedure based on linkage of the clinical phenotype with genomic marker sequences. Additional missense mutations have been located in the globular head of β-myosin, and other disease loci have been identified on chromosomes 1, 11, and 15; the disease genes in these loci have not yet been determined, however.

Key Words: Cardiomyopathy • hypertrophy • mutation analysis • β-myosin heavy chain • candidate genes


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