首次发现肥厚型心肌病肌球蛋白结合蛋白C基因Arg856fs突变

目的： 研究中国人群肥厚型心肌病(HCM)患者的致病基因突变位点，并对基因型与临床表型之间的关系进行分析。方法: 对76例HCM先证者进行聚合酶链反应(PCR)扩增心肌肌球蛋白结合蛋白C基因（MYBPC3）第15 16,18,26,28,34号外显子，产物做单链构象多态性(SSCP)分析，出现异常条带者将其目的片段和正常对照组该片段送检测序。结果: 在1例52岁男性患者的MYBPC3基因第26号外显子上发现了一个新的移码突变位点Arg856fs。由于在100名正常对照组中未见异常，故我们认为此突变位点为该患者的致病基因位点。结论: MYBPC3基因是我国HCM的致病基因之一。

A new frame shift mutation, Arg856fs mutation,in cardiac myosin binding protein-C gene of Chinese populations with hypertrophic cardiomyopathy

Objective:To explore the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy(HCM),and to analyze the correlation between the genotype and the phenotype.Methods: The exons 15-16,18,26,28 and 34 of cardiac myosin binding protein-C gene in 76 patients with hypertrophic cardiomyopathy were amplified by PCR,and the PCR products were underwent SSCP analysis.If any abnormal band was detected on the gel,the suspicious PCR products were sequenced to detect the exact mutant point.One hundred normal persons were used as controls.Results: A frame shift mutation,Arg856fs mutation,in the exon 26 of the MYBPC3 gene was identified in a 52-year-old male patient with HCM and failed to be detected in the 100 normal controls,which suggested the disease-causing mutation.Conclusion: Cardiac myosin binding protein-C(MYBPC3) may be one of the main disease-causing genes.