PKP2基因突变与致心律失常性右心室心肌病相关

Relationship between PKP2 Gene Mutation and Arrhythmogenic Right Ventricular Cardiomyopathy

为了探讨血小板亲和蛋白2（PKP2）基因突变与致心律失常性右心室心肌病（ARVC）的关系。选取2011年2月至2017年5月在我院治疗的ARVC患者41例（ARVC组）,同时选取50例健康志愿者作为对照组,采用PCR扩增PKP2基因DNA片段,检测PKP2基因突变以及单核苷酸多态性（SNP）位点基因型及等位基因频率。结果显示,ARVC组PKP2基因突变率为29.27%,明显高于对照组的0.00%（p〈0.05）;12例PKP2基因突变共发现了7个突变位点,包括3个错义突变、2个无义突变、1个缺失突变和1个剪接位点突变;ARVC组PKP2基因突变患者室速、LBBB型电轴向上形态室速比例均为83.33%,明显高于非突变患者的37.93%和41.38%,差异具有统计学意义（p〈0.05）;PKP2基因共有2个SNP位点,包括P273和L366P位点,ARVC组和对照组2个SNP位点基因型频率及等位基因频率差异无统计学意义（p〉0.05）。ARVC患者PKP2基因突变较高,与患者迅速发作有关,而PKP2基因的两个SNP位点（P273P和L366P）与ARVC发病无关。

The objectives of this study was to investigate the relationship between Plkophilin-2（PKP2） gene mutation and arrhythmogenic right ventricular cardiomyopathy（ARVC）. 41 cases of ARVC patients treated in our hospital from February 2011 to May 2017 were selected as ARVC group, and 50 healthy volunteers were selected as control group, PKP2 gene DNA fragments were amplified by PCR. PKP2 gene mutation, single nucleotide polymorphism（SNP） loci genotype and allele frequencies were detected. The results showed that, the mutation rate of PKP2 gene in ARVC group was 29.27%, which was obviously higher than control group（0%）（P〈0.05）; 7 mutations loci were found in 12 cases of PKP2 gene mutation, containing 3 missense mutations, 2 nonsense mutations, 1 deletion mutation and 1 splice site mutation; in ARVC group, the ratio of ventricular tachycardia, and type LBBB electric axial velocity ratio of shape to chamber were 83.33%, higher than 37.93% and 41.38% in non-mutation patients, the difference was statistically significant（P〈0.05）; there were 2 SNP loci in PKP2 gene, including P273 and L366 P loci, while there was no significant difference in genotype frequency and allele frequency between 2 SNP loci in ARVC group and control group（P〈0.05）. PKP2 gene mutations were higher in patients with ARVC, and had relationships with the onset of VT, the two SNP loci（P273 P and L366 P） of the PKP2 gene might be not associated with the onset of ARVC.