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目的 研究中国人肥厚型心肌病的致病基因突变位点,寻找基因型与临床表型及预后的相互关系.方法 在529例肥厚型心肌病患者中panel测序筛查8个肌小节致病基因.通过聚合酶链式反应(PCR)相应外显子并对PCR产物进行Sanger测序分析,验证发现的心脏型肌球蛋白结合蛋白C (MYBPC3)基因突变.结果 在3例肥厚型心肌病患者中发现MYBPC3基因Tyr842Ter突变.该突变位于MYBPC3基因第25号外显子,其CDS第2526位碱基由C转换为G,结果导致第842位酪氨酸(Tyr)转变终止密码子(Ter).370例正常对照的相同位置未发现此突变.携带该突变的肥厚型心肌病患者临床表型均为肥厚型非梗阻性心肌病,发病年龄晚(69.33+10.69岁),长期随访预后良好.结论 MYBPC3基因Tyr842Ter突变在中国人肥厚型心肌病患者中比例较高,临床表型均为非梗阻性心肌病,发病年龄晚.我们研究结果提示此突变为良性突变.“,”Objective To identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy(HCM).Methods Five hundred and twenty-nine unrelated patients with HCM and 370 controls were enrolled in this study.The full encoding exons and flanking sequences of the cardiac myosin binding protein C gene(MYBPC3)were amplified with PCR and the products were sequenced.Results A nonsense mutation c.2526C＞G was identified in exon 25 of MYBPC3 gene in three HCM patients,which resulted a Tyrosine(Y) to Nonsense(Stop) exchange at amino acid residue 842(Tyr842Ter).The clinical phenotypes of the three patients were the same (non-obstructive HCM with atrial fibrillation).The 370 controls were normal in the genetic test.Conclusions The Tyr842Ter mutation in MYBPC3 gene was a benign mutation in Chinese patients with HCM,and had a good prognosis.