目的观察肥厚型心肌病(HCM)患者中心脏肌球蛋白结合蛋白C基因(MYBPC3)插入突变的特点。方法在100例HCM患者中对MYBPC3的所有外显子及其侧翼内含子序列进行基因扫描,聚合酶链反应(PCR)扩增目的片段,双脱氧末段终止法测序。对突变患者进行家系调查,分析其表型特点。结果在一先证者及其一个家系成员中发现一个位于外显子29的五核苷酸插入突变(18115_18116ins-GCAGG),序列分析发现1032位缬氨酸后发生了移码突变(p.Val1032fs),造成先证者60岁发病,超声心动图上表现为室间隔重度不对称性心肌肥厚(35mm)。结论插入突变是MYBPC3基因突变的特点,18115_18116insGCAGG导致的HCM表型发病晚,心肌肥厚程度重。 Objective To observe the characteristics of the insertion mutation of cardiac myosin binding protein C gene (MYBPC3) in patients with hypertrophic cardiomyopathy (HCM). Methods All exons and their flanking intron sequences of MYBPC3 were genotyped in 100 patients with HCM. PCR was used to amplify the target fragments and dideoxy end-stop sequencing. Family history of patients with mutations, analysis of its phenotypic characteristics. Results A pentanucleotide insertion mutation (18115_18116ins-GCAGG) was found in a proband and one of its pedigree members. Sequence analysis revealed a frameshift mutation at position 1032 (p.Val1032fs ), Resulting in probands 60-year-old onset of echocardiography showed severe ventricular septal asymmetric hypertrophy (35mm). Conclusion The insertion mutation is the characteristic of MYBPC3 gene mutation. The phenotype of HCM induced by 18115_18116insGCAGG is late and the degree of myocardial hypertrophy is heavier.