Inventors:
Mark T. Keating - Salt Lake City UT
Thomas M. Olson - Salt Lake City UT
Assignee:
University of Utah Research Foundation - Salt Lake City UT
International Classification:
C12Q 168
Abstract:
Two mutations in the human cardiac actin gene are disclosed which have been associated with idiopathic dilated cardiomyopathy (IDC) in two families. These mutations cosegregate with IDC in the two families. Both mutations affect universally conserved amino acids in domains of actin that attach to Z bands and intercalated discs. Analysis of the cardiac actin gene can be used to determine the presence in a patient of IDC resulting from mutations in this gene. Such analysis is useful in the diagnosis and prognosis of the disease in patients with mutations in this gene.