致心律失常性右室心肌病桥粒蛋白基因突变检测

The Detection of Desmosomal Protein Gene Mutation in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy

目的致心律失常性右室心肌病(ARVC)为常染色体遗传性疾病,目前已经发现了与之相关的数个基因。大陆ARVC患者的致病基因筛查鲜有报道。方法本研究纳入2例家族性ARVC患者及10例散发的ARVC患者,提取其外周血DNA,设计DSP、PKP2、DSG2、DSC2和JUP/PG基因各外显子的引物,聚合酶链反应(PCR)扩增其功能区的外显子片段,直接测序,将测序结果与正常基因组进行比对以确定其突变位点。结果去除单核苷酸多态(sNF)后,12例ARVC患者中有5例存在基因突变:DSG2基因第8号外显子、第14号外显子存在错义突变位点;JUP基因第3号外显子存在同义突变位点、第5号外显子基因存在错义突变位点。结论中国ARVC人群的DSG2基因和JUP基因存在致病突变。

Objective To Desmosome gene mutations have been reported in patients with arrhythmogenic right ventricular cardiomyopathy（ARVC）.However,there are hardly any genetic studies in mainland.This study aim to investigate desmosomal gene mutations in Chinese patients with ARVC.Method Two familial and Ten sporadic ARVC patients were reviewed and genomic DNA was obtained from peripheral blood samples.Mutation screening in desmoplakin（DSP）,plakophilin-2（PKP2）,desmoglein-2（DSG2）desmocollin-2（DSC2）,and plakoglobin（JUP/PG） genes was performed using polymerase chain reaction（PCR） and DNA sequencing techniques.Results Except for single nucleotide polymorphism（SNP）,mutations in desmosome genes were identified in 5 of the 12patients：missense mutation in exon 8,exon 14 of DSG2 gene and exon 5 of JUP gene;synonymous mutation in exon 3 of JUP gene.Conclusions There are pathogenic mutations of DSG2 and JUP in patients with ARVC in China.