肥厚型心肌病患者肌球蛋白结合蛋白C基因筛查及其相应的临床特征  

Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy

作　　者：马占锋[1] 刘文玲[1] 胡大一[1] 谢文丽[2] 朱天刚[1] 孙艺红[1] 杨松娜[1] 李翠兰[1] 李蕾[1] 聂孝云[1] 杨进刚[3] 李田昌[3] 边红[3] 仝其广 肖杰 王国宏[3] 崔炜[4] 范瑞云[5] 李运田 

机构地区：[1]北京大学人民医院心内科,100044 [2]北京电力医院心内科 [3]同仁医院心内科 [4]河北医科大学二院心内科 [5]解放军第二六六医院心内科 [6]解放军第三0五医院心内科

出　　处：《中华心血管病杂志》2009年第8期734-738,共5页Chinese Journal of Cardiology

摘　　要：目的研究国人肥厚型心肌病（HCM）患者的致病基因～肌球蛋白结合蛋白c基因（myosin binding protein C gene，MYBPC3）的突变位点，分析基因突变类型与临床表型的相互关系。方法对66例HCM患者的MYBPC3基因进行扫描，聚合酶链反应扩增其外显子及剪接部位的基因组DNA片段，直接测序分析。分析各突变患者相应的临床表型特点。结果经测序分析，发现Lys301fs移码突变、Asp463stop无义突变、Gly523Arg错义突变和Tyr847His错义突变。MYBPC3导致的HCM为3例，占病例总数的4．5％。其临床表型各异，患者H30（Lys301fs）47岁发病，活动后胸闷、气短，超声显示室间隔肥厚达18．7mm，左心室后壁14．7mm。患者H48（Asp463stop）为25岁男性，24岁发病，室间隔肥厚达15．4mm。患者H53（Gly523Arg和Tyr847His）发病年龄36岁，活动后胸闷、憋气，伴心前区疼痛，室间隔肥厚达27mm。结论MYBPC3突变为HCM主要致病原因之一。MYBPC3突变基因携带者临床表型差异大。国人MYBPC3突变患者多在青壮年期发病，不同于国外报道的多发病较晚。Objective To screen the MYBPC3 gene mutations in Han Chinese patients with hypertrophic cardiomyopathy （HCM）. Methods Sixty-six patients with HCM were enrolled for the study. The exons in the functional regions of MYBPC3 were amplified with PCR and the products were sequenced. Results Four novel mutations and four common polymorphisms were identified in this patient cohort. A Lys301fs mutation in exon10 was evidenced in a H30, and when he was 47 years old, he had the chest tightness, shortness of breath with septal hypertrophy of 18.7mm; a Asp463stop mutation in exonl7 was detected in a H48, he was 24 years old 24-year-old when a medical examination showed ventricular septal hypertrophy of 15.4 mm; both Gly523Arg mutation in exonl8 and Tyr847His mutation in exon26 were found in a H53 with onset age 36 years old, feeling chest tightness after excise and his ventricular septal hypertrophy was 27 mm that time. MYBPC3 mutatons occurred in 4.5% patients in this cohort. These mutations were not found in 100 non-HCM control patients. Conclusion MYBPC3 mutation is presented in a small portion of Han Chinese patients with HCM.

关 键 词：心肌病 肥厚性 突变 表型 

分 类 号：R686[医药卫生—骨科学]