发作性运动诱发性运动障碍患者PRRT2基因突变的研究

Study on PRRT2 gene mutation in patients with paroxysmal kinesigenic dyskinesia

目的:探讨发作性运动诱发性运动障碍(Paroxysmal kinesigenic dyskinesia,PKD)个体与富含脯氨酸的跨膜蛋白2(Proline-rich transmembrane protein2,PRRT2)基因突变的相关性。方法:收集由佳木斯中心医院提供的14例散发病例的外周血3mL,同时取健康人30例对照。DNA提取试剂盒提取外周血DNA。PCR扩增PRRT2基因外显子2的全序列,PCR产物分别送上海生工测序,测序结果用Blast与Genebank中的序列(NM—145239.3)进行比对,寻找突变位点。结果:14例个体中发现4例错义突变,30例健康对照中均无基因突变。4例基因突变分别为c.846-847 insC(p.P217fsX)(5/14)、c.906G>A(p.Glys237Arg)(1/14)、c.609C>G(p.Pro138Ala)(5/14)和c.882G>A(p.Arg229 Lys)(9/14),其中(c.882G>A(p.Arg229 Lys)为新发现的突变。结论:PRRT2基因突变是PKD的主要致病基因,本研究发现了一个新的点突变,扩大了PKD发病的基因谱,为阵发性运动障碍疾病的诊断提供新的检测突变点。

Objective:To investigate the relationship between paroxysmal kinesigenic dyskinesia(PKD)and proline-rich transmembrane protein 2(PRRT2)gene mutation.Methods:Blood samples from 14 patients with sporadic episodic motion-induced dyskinesia provided by Jiamusi Central Hospital were selected as the study group,and blood samples from 30 healthy subjects during the same period were selected as the control group,and 3mL of peripheral blood was collected from all patients.DNA extraction kit is used to extract DNA from peripheral blood.The full sequence of exon 2 of PRRT2 gene was amplified by PCR,and the PCR products were sent to Shanghai Sangon for sequencing.The sequencing results were compared with the sequence in Genebank(NM_145239.3)by BLAST to find the mutation sites.Results:Four missense mutations were found in the blood samples of 14 patients,and no mutation was found in the blood samples of 30 healthy controls.C.846-847 insC(p.P217fsX)(5/14),c.906G>A(p.Glys237Arg)(1/14),c.609C>G(p.Pro138Ala)(5/14)and c.882G>A(p.Arg229 Lys)(9/14),where(c.882G>A(p.Arg229 Lys)is A newly discovered mutation.Conclusion:PRRT2 gene mutation is the main pathogenic factor of PKD.In this study,a new mutation site was found,which expanded the gene spectrum of PKD and provided a new detection mutation site for the diagnosis of parodic motor induced dyskinesia.