锰中毒性帕金森综合征与线粒体基因部分点突变的关系

目的：研究线粒体基因的点突变和锰中毒性帕金森综合征之间的关系,并了解其是否与锰中毒性帕金森综合征发病有关。方法：采用聚合酶链反应（PCR）、单链构象多态性分析（SSCP）,测序方法对临床诊断为锰中毒性帕金森综合征的28例患者和37例在相同环境下接触锰未发病的对照组的线粒体基因的点突变1709、3397、G3196A、T4216C、A4336G、G5460A、G9055A、A10398G,、G13708A所在的片段进行分析。结果：在28例锰中毒性帕金森综合征患者中发现4例患者存在CA253G点突变,2例存在A10398G、CIlM00T点突变,在37例锰接触对照组中发现15例存在A10398G、C10400T点突变,两组之间的C4253G、A10398G、C10400T的突变率有统计学意义。所有研究对象均未检测到1709、3397、G3196A、T4216C、A4336G、G5460A、G9055A、G13708A突变。结论：线粒体基因CA253G点突变可能是锰中毒性帕金森综合征的一个致病突变;线粒体基因A10398G、C10400T可能是锰中毒性帕金森综合征的一个保护性突变,也可能是一个保护性联合突变。而线粒体基因的点突变1709、3397、G3196A、T4216C、A4336G、G5460A、G9055A、G13708A可能与锰中毒性帕金森综合征无相关。

MITOCHONDRIAL DNA PARTLY POINT MUTATIONS IN MANGANESE - INDUCED PARKINSONISM

Objective：To test the association between mitochondrial DNA （mtDNA） point mutations and manganese -induced Parkinsonism. Methods： Twenty - eight patients with manganese - induced Parkinsonism and 37 healthy controls who aren＇ t manganese - induced Parkinsonism patients in same environment with patients were enrolled. Polymerase Chain Reaction （PCR） was used to ampli- fy mtDNAI709,3397,G3196A,T4216C, A4336G, G5460A, G9055A,A10398G, G13708A. For the PCR products were screened for mutations using a combination of single - stranded conformation polymorphism （SSCP） analysis and the abnormal segments were sequenced. SNP frequencies were compared by the x2 test. Results：The frequencies of three SNPs （ C4253G, A10398G, C10400T） were found to be significantly different （P ~〈 0.05） between the patient group and the control groups. One polymorphism （CA253G） has not been reported before and was observed in four patients. SNP A10398G and CI0400T remained highly significant （P =0.002）. Con- clusion：The results suggest that the SNP （CA253G）increase the risk of developing manganese -induced Parkinsonism, whereas A10398G and CI0400T had protective effects or were a linked protection mutation. Our study showed that mtDNA CA253G was possiblly a new pathogenic polymorphism. We did not find a significant association between manganese - induced Parkinsonism and these polymorphisms （ nplT09, np3397, G3196A ,T4216C, A4336G, G5460A, G9055A, G13708A）.