CAJ | 학술논문

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.
목적 조사치심률실상성우심실심기병(ARVC)환자교립반단백(DSP)기인돌변화단핵감산다태성(SNPs)발생솔.방법 대초보진단위ARVC적50례환자채용2010년신진단표준여이중신평고.응용취합매련식반응(PCR)확증DSP기인전부외현자편단병측서,병례조측서결과여198례정상대조조진행비대분석.결과 37례부합ARVC학진병례,9례위림계진단병례,령유4례위의사진단병례.학진병례중유5례(14％)휴대5충DSP기인돌변,기왕균미견보도,포괄4충착의돌변화1충무의돌변,림계진단여의사진단병례균미검출DSP기인돌변.동시검출4개비동의SNPs위점,기등위기인빈솔재대조조화병례조간차이무통계학의의.결론 본조ARVC환자DSP기인돌변검출솔위14％,차균위신발현돌변.DSP기인외현자구역적4개SNPs위점가능여ARVC적발병무상관성.
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.