中文摘要：

目的在致心律失常性右心室心肌病（ARVC／D）患者中筛选PKP2基因突变，并与患者的表现型进行对比分析。方法收集30例ARVC／D患者的临床资料，检查心电图、超声心动图等，留取外周血，并以50例健康者作为对照，提取基因组DNA，使用PCR扩增PKP2基因DNA片段，直接测序检测PKP2基因突变，对比突变组与非突变组临床参数之间的差异。结果30例ARVC／D患者中，男性占73．3％（22／30），10例患者（男：女：8：2）发现了PKP2的8个突变位点，其中3个（c．2194C〉T、c．1170＋1G〉A和C．810_813delGGTC）为新发现的突变位点，而健康对照组并未发现相应突发位点。PKP2突变和非PKP2突变患者的临床特征无明显差别。结论PKP2基因突变的检出比率在患者中为33．3％（10／30），男性ARVC／D患者外显率趋于高于女性；PKP2基因突变组与非突变组间临床表型未见显著差别。

英文摘要：

Objective The purpose of this study was to screen genetic variations in plakophilin-2 （PKP2） gene in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia （ARVC/D） and investigate the differences in clinical features between mutation and no-mutation groups. Methods Thirty unrelated Chinese patients clinically diagnosed with ARVC/D and 50 healthy controls were included. Genomic DNA was isolated from peripheral blood samples. PCR and direct sequencing were used to detect variations in PKP2 gene. Results Eight PKP2 mutant variants were identified in 10 ARVC/D patients （8 men, 2 women）. Among the eight mutation, three （c. 2194C 〉 T, c. 1170 ＋ 1G 〉 A and c. 810_ 813delGGTC） were novel mutation. Clinical features of the PKP2 mutation group were similar to those of the non-mutation group. Conclusions The rate of PKP2 mutation is 33.3% （10/30） in ARVC/D patients. The penetrance of PKP2 mutation for ARVC/D tends to be higher in man patients. No significant differences could be detected in phenotype characteristics between patients with and without PKP2 mutation.