锰中毒性帕金森综合征与线粒体基因部分点突变的关系

发布时间：2018-06-01 15:29

本文选题：锰中毒性帕金森综合征 + 线粒体基因　；参考：《牡丹江医学院学报》2014年02期

【摘要】：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C4253G点突变,2例存在A10398G、C10400T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C4253G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。
[Abstract]:Aim: to study the relationship between point mutation of mitochondrial gene and manganese toxic Parkinson's syndrome and whether it is related to manganese toxic Parkinson's syndrome. Methods: polymerase chain reaction (PCR) and single strand conformation polymorphism (SSCP) were used to analyze mitochondrial mitochondria in 28 patients with manganese toxic Parkinson's syndrome and 37 controls exposed to manganese in the same environment. The point mutation of the gene was 1709, 3397G3196A, T4216CU, A4336G, G5460A, G9055A, A10398G, G13708A, and the fragment was analyzed. Results: among 28 patients with manganese toxic Parkinson's syndrome, 4 patients were found to have C4253G point mutation and 2 patients had A10398GfC10400T point mutation. In 37 manganese exposure control group, 15 patients had A10398GfU C10400T point mutation. The mutation rate of C 4253 GV A 1039 8 G C 10400 T between the two groups was statistically significant. No mutation of G13708A was detected in all the subjects. Conclusion: the point mutation of mitochondrial gene C4253G may be a pathogenic mutation of manganese toxic Parkinson's syndrome, and the mitochondrial gene A10398GfC10400T may be a protective mutation of manganese toxic Parkinson's syndrome or a protective combined mutation. However, the point mutation of mitochondrial gene was not associated with manganese toxic Parkinson's syndrome. The point mutation of mtDNA gene was 1709 / 3397 G3196A / T4216CU / A4336GG5460A / G9060A / G9055A / G13708A / G13708A / G13708A / G13708A, respectively.
【作者单位】：广西医科大学第一附属医院;
【基金】：广西自然科学基金资助项目(桂科自0728147)
【分类号】：R742.5;R595.2

【共引文献】