帕金森病患者线粒体DNA突变位点G1719A、G4580A、C7028T分析

目的研究有关线粒体DNA（mtDNA）点突变与我国人群散发性帕金森病（Parkinson disease，PD）的关系。方法采用经典的酚／氯仿抽提法对88例PD患者（研究组）和60例健康体检者（对照组）的全血基因组DNA进行抽提，针对与PD发病有关的mtDNA突变位点G1719A、G4580A、C7028T设计特异的引物，经过PCR鉴定和基因测序，在NCBI基因库上进行BLAST比对分析，发现突变位点。结果PD患者有10例在C7028T位点发现突变，8例在G1719A位点发现突变，3例在G4580A位点发现突变，对照组未发现突变位点。结论散发性PD患者存在线粒体基因的点突变，线粒体基因的点突变可能参与PD的发病过程。

Mitochondrial DNA point mutations of G1719A, G4580A and C7028T in Parkinson's disease

Objective To study the relationship between the mitochondrial DNA （mtDNA） point mutation and Chinese sporadic Parkinson＇s disease （PD）. Methods Genomic DNA extraction from whole blood was carried out with classical phenol/ chloroform extraction method in 88 patients with PD and 60 normal controls. The mtDNA mutations at G1719A, G4580A, C7028T were identified by PCR and gene sequencing, the point mutations were analyzed using BLAST comparison on NCBI of Genebank. Results G1719A mutation was identified in 8 PD patients; G4580A mutation was found in 3 cases; C7028T mutation was found in 10 cases, while no point mutation was identified in control group. Conclusion Point mitochondrial DNA mutation founds in sporadic PD patients indicate that it may be involved in the pathogenesis of PD.