Liu Xin, Liu Wenling, Hu Dayi, Zhang Li, Zhu Tiangang, Li Cuilan, Qiu Xiaoliang, Li Lei, Guo Chengjun, Liu Xingpeng, Wang Lei, Zheng Hua, Wang Chunling, Diao Qing, Shi Dan, Zhan Pingyun, Deng Yuanming, Liu Kunshen, Wang Yi, Liu Baomin, Liu Hongming, Qin Xuguang, Lan Yanping
Cardiology Center, Peking University People's Hospital, Beijing 100044, China; Email:
Zhonghua Nei Ke Za Zhi. 2015 Dec;54(12):1001-6.
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.
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.
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.
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.
本研究旨在筛查致心律失常性右室心肌病/发育不良（ARVC/D）患者中桥粒斑菲素蛋白2（PKP2）基因的遗传变异，并探究突变组与非突变组临床特征的差异。
纳入30例临床诊断为ARVC/D的无亲缘关系的中国患者及50例健康对照。从外周血样本中提取基因组DNA。采用聚合酶链反应（PCR）和直接测序法检测PKP2基因变异。
在10例ARVC/D患者（8例男性，2例女性）中鉴定出8种PKP2突变变异。在这8种突变中，3种（c.2194C>T、c.1170+1G>A和c.810_813delGGTC）为新突变。PKP2突变组的临床特征与非突变组相似。
ARVC/D患者中PKP2突变率为33.3%（10/30）。PKP2突变在男性ARVC/D患者中的外显率往往更高。PKP突变患者与未突变患者的表型特征未检测到显著差异。
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