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Genetic Analysis of Cardiacβ Myosin Heavy Chain(MHC)Gene in Seven Families with Hypertrophic Cardiomyopathy in Japan


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Title: Genetic Analysis of Cardiacβ Myosin Heavy Chain(MHC)Gene in Seven Families with Hypertrophic Cardiomyopathy in Japan
Authors: Hayashi, Ikuo / Ashizawa, Naoto / Oku, Yasuhiko / Ozeki, Shinichiro / Ohtsuru, Akira / Yano, Katsusuke
Issue Date: 25-Oct-1994
Citation: Acta medica Nagasakiensia. 1994, 39(1-3), p.168-171
Abstract: The purpose of this study was to identify the presence of either mutation or polymorphism in the cardiac β myosin heavy chain (MHC) gene of the Japanese who had familial hypertrophic cardiomyopathy (FHCM). We analyzed exons 3-25 of the cardiac MHC gene in seven unrelated Japanese families (17 affected and 10 unaffected individual with HCM), using the polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. Our study showed that affected members of one family (proband; I.I.) had an identical pattern of aberrantly migrating band of exon 21.Similarly we found polymorphism and probable point mutation located on exon 3 of one patient with sporadic HCM (Pt;T.M.). Both proband;I. I. and Pt; T.M., developed lethal congestive heart failure with left ventricular (LV) dilatation as confirmed by autopsy. This suggest that PCR-SSCP analysis is an useful tool for clinical screening of HCM.
URI: http://hdl.handle.net/10069/15995
ISSN: 00016055
Type: Departmental Bulletin Paper
Text Version: publisher
Appears in Collections:Volume 39, No. 1-3

Citable URI : http://hdl.handle.net/10069/15995

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