CAJ | 학술논문

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.
목적 조사단중심치심률실상성우심실심기병(ARVC)환자PKP2돌변발생솔.방법 대50례고필진단위ARVC적환자채용2010년신진단표준진행중신평고.채용취합매련식반응(PCR)확증PKP2기인각외현자편단병측서,결과여200례정상대조조진행비대분석.결과 37례피학진ARVC,9례위림계진단,령4례위의사진단.학진환자중유10례(27％)휴대7개신돌변화3개이보도돌변,포괄7개무의돌변화3개착의돌변,림계진단급의사진단환자균미검측출PKP2기인돌변.휴대PKP2돌변적환자여미휴대돌변적환자림상특정차이무통계학의의.결론 본조ARVC환자PKP2기인돌변발생솔여구미국가상사,단돌변보존재차이.
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.