37例致心律失常性右心室心肌病患者PKP2基因检测  

作　　者：王本琪[1] 周秀娟[1] 杨兵[1] 王静[1] 王薇[1] 丰尚鹏[1] 李丹丹[1] 宋华连[1] 陈红武[1] 陈明龙[1] 曹克将[1] 

机构地区：[1]南京医科大学第一附属医院心血管内科,210029

出　　处：《中华心律失常学杂志》2013年第2期138-142,共5页Chinese Journal of Cardiac Arrhythmias

基　　金：基金项目：国家自然科学基金项目（81070158,8117016181100065）

摘　　要：目的调查单中心致心律失常性右心室心肌病（ARVC）患者PKP2突变发生率。方法对50例考虑诊断为ARVC的患者采用2010年新诊断标准进行重新评估。采用聚合酶链式反应（PCR）扩增PKP2基因各外显子片段并测序，结果与200例正常对照组进行比对分析。结果37例被确诊ARVC，9例为临界诊断，另4例为疑似诊断。确诊患者中有10例（27％）携带7个新突变和3个已报道突变，包括7个无义突变和3个错义突变，临界诊断及疑似诊断患者均未检测出PKP2基因突变。携带PKP2突变的患者与未携带突变的患者临床特征差异无统计学意义。结论本组ARVC患者PKP2基因突变发生率与欧美国家相似，但突变谱存在差异。Objective To investigate the prevalence and spectrum of PKP2 mutations in Chinese Han patients with arrhythmogenic right ventricular cardiomyopathy (ARVC).Methods A total of 50 subjects were recruited into the present study based on the original international task force criteria of ARVC.Clinical data were reassessed according to modified criteria for diagnosis of ARVC.DNA sequence of PKP2 gene was analyzed.Results Among all the subjects studied,37 of them were diagnosed with ARVC,9 with a borderline diagnosis,and 4 with a possible diagnosis.Ten different mutations in PKP2 were identified in 10 (27％) of the 37 patients with ARVC.Seven mutations were novel,and three have been reported.Neither patients with borderline diagnosis nor possible diagnosis of ARVC harbored PKP2 mutations.There was no significant difference in clinical characteristics between patients with and without PKP2 mutation.Conclusions Prevalence of PKP2 mutations in Chinese with ARVC seems similar as that in European or North American.However,PKP2 mutations might have a distinct spectrum in Chinese Han people with ARVC.

关 键 词：致心律失常性右心室心肌病 基因突变 

分 类 号：R542[医药卫生—心血管疾病]