Analysis of the sarcomere preotein gene mutation on cardiomyopathy -Mutations in the troponin complex genes
Analysis of the sarcomere preotein gene mutation on cardiomyopathy -Mutations in the troponin complex genes
复制标题
心肌病肌小节蛋白基因突变分析-肌钙蛋白复合物基因突变
DOI：
10.1016/j.fsigss.2011.09.114
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Kurihara K
中科院分区：
文献类型：
--
作者：
Murakami C;Nakamura S;Irie W;Sasaki C;Furukawa M;Kurihara K
心肌病(CM)的分子遗传学研究进展导致了肌节蛋白编码基因的大量突变。本研究对36例确诊为CM的尸检病例进行了TNNT2、TNNI3和TNNC1基因的综合筛查，以评估CM猝死中基因突变的发生率。共检测到12个突变和15个单核苷酸多态(SNPs)。提示本研究有助于CM所致猝死的遗传学诊断、危险分层和预防。
Developments in the molecular genetic studies of cardiomyopathy (CM) have led to discovery of a large number of mutations in the genes encoding the sarcomeric proteins. In this study, comprehensive screening of TNNT2, TNNI3 and TNNC1 was performed in 36 consented autopsy cases diagnosed as CM, in order to evaluate the prevalence of gene mutations in sudden death caused by CM. A total of 12 mutations and 15 single nucleotide polymorphisms (SNPs) were detected. It was indicated that this study contribute to genetic based diagnosis, risk stratification and prevention of sudden death caused by CM.