中文摘要：

目的 调查致心律失常性右心室心肌病（ARVC）患者桥粒斑蛋白（DSP）基因突变和单核苷酸多态性（SNPs）发生率.方法 对初步诊断为ARVC的50例患者采用2010年新诊断标准予以重新评估.应用聚合酶链式反应（PCR）扩增DSP基因全部外显子片段并测序,病例组测序结果与198例正常对照组进行比对分析.结果 37例符合ARVC确诊病例,9例为临界诊断病例,另有4例为疑似诊断病例.确诊病例中有5例（14％）携带5种DSP基因突变,既往均未见报道,包括4种错义突变和1种无义突变,临界诊断与疑似诊断病例均未检出DSP基因突变.同时检出4个非同义SNPs位点,其等位基因频率在对照组和病例组间差异无统计学意义.结论 本组ARVC患者DSP基因突变检出率为14％,且均为新发现突变.DSP基因外显子区域的4个SNPs位点可能与ARVC的发病无相关性.

英文摘要：

Objective To investigate the prevalence of mutations and single nucleotide polymorphisms （SNPs） in exons of Desmoplakin （DSP） gene in Chinese Han patients with arrhythmogenic right ventricular cardiomyopathy（ARVC）.Methods A total of 50 subjects were recruited in this study based on the Original International Task Force Criteria of ARVC,and the clinical data were reassessed according to Modified Criteria for Diagnosis of ARVC.All exons of DSP gene were screened using polymerase chain reaction（PCR） and direct sequencing.For each variant,198 unrelated healthy individuals were compared with the study subjects.Results According to the novel Task Force Criteria,37 of 50 patients were classified as definite,7 as borderline and 4 as possible ARVC,respectively.Five novel DSP mutations were identified in five （14%） of the 37 patients.There was no mutation in patients diagnosed as borderline and possible ARVC.Meanwhile,four SNPs with changed amino acid were found and the allele frequencies between the patients and the controls had no significant diference.Conclusion The prevalence of DSP mutations in patients with ARVC is 14% and might have a distinct spectrum.Four SNPs in the exons of DSP gene probably have no relationship with ARVC susceptibility.