致心律失常性右室心肌病plakophilin-2基因新单核苷酸多态性位点

目的收集致心律失常性右室心肌病(ARVD/C)患者,检测P lakoph ilin-2(PKP-2)、Transform ing growthfactor-β3(TGFβ-3)和Desmop lak in(DSP)基因突变,发现新单核苷酸多态性(SNP)位点。方法从49例临床诊断ARVD/C患者中留取心电图、心脏超声等指标,并与200例健康者共同留取外周血样本,提取基因组DNA,使用聚合酶链反应结合直接测序方法来检测PKP-2、TGFβ-3和DSP基因突变,并对比突变组与非突变组各临床参数间的差异。结果在PKP-2基因第一内含子,有7例ARVD/C患者检测到一杂合突变(c.224-3 G>C)——新SNP位点,其余42例ARVD/C患者和200例健康对照者中均未检测到该突变,和非突变组相比,突变组ARVD/C患者右室明显增大、V2导联S波升支时限明显延长。结论在ARVD/C患者PKP-2基因中检测到一新SNP效应位点(c.224-3 G>C)。

A novel single nucleotide polymorphism in intron-1 of plakophilin-2 in arrhythmogenic right ventricular dysplasia-cardiomyopathy patients from China

Objective We screened for genetic variations in the plakophilin-2 （PKP-2）, transforming growth factor-β3 （TGFβ-3） and desmoplakin （DSP） genes in arrhythmogenie right ventrieular dysplasia-eardiomyopathy （ARVD/C） patients, and investigated the differences of clinic parameters between mutation and no-mutation group. Methods Genomic DNA was isolated from peripheral blood samples of 49 patients clinically diagnosed with ARVD/C and 200 healthy controls. Polymerase chain reaction （PCR） followed by direct sequencing was used to detect variations in the sequences of PKP-2, TGFβ-3 and DSP. Results A novel single nueleotide polymorphism （SNP） site （ c. 224-3 G 〉 C） was found in intron- 1 of the PKP-2 gene in seven of the ARVD/C patients, but was not found in any of the control patients. In the patients earrying the SNP, the right ventricle was found to be significantly larger than controls＇ and the S-wave upstroke of V2 lead was longer. Conclusion The novel SNP site is significantly correlated with ARVD/C and with physiological differences in patients of southern Chinese descent.