中国肥厚型心肌病患者心脏型肌球蛋白结合蛋白C基因突变特点分析

Analysis the Genotype of Cardiac Myosin-binding Protein C Gene Associated with Chinese Hypertrophic Cardiomyopathy Patients

目的观察中国肥厚型心肌病(HCM)患者心脏型肌球蛋白结合蛋白C基因(MYBPC3)突变的特点。方法在100例中国HCM患者中对MYBPC3基因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。分析国人HCM患者基因突变的特点。结果 100例HCM患者中,10例患者携带9种MYBPC3基因突变,5种为错义突变,1种为剪接位点突变,1种为插入突变,2种为缺失突变。结论 MYBPC3基因是中国HCM人群的常见致病基因,并且MYBPC3基因突变形式多种多样,这是其主要的突变特点之一。

Objective To describe the features of cardiac myosin-binding protein C gene （MYBPC3） mutations associated with hypertrophic cardiomyopathy. Methods A systematic mutation screening of the whole exons and the adjacent introns of MYBPC3 gene was performed in 100 unrelated Chinese adult patients with HCM using direct DNA sequencing. Results Ten cases carried 9 mutations was identified in 100 isolated pa- tients with HCM, including 5 missense mutations,1 splice-site mutation, 1 insertion mutation and 2 deletion mutations. Conclusion MYBPC3 was the predominant HCM-causing gene in Chinese, and various mutation types were identified, which was one of the most distinct features of MYBPC3 genotype.