线粒体DNA点突变与锰中毒性帕金森综合征的关系  

Correlation between mitochondrial DNA point mutation and manganese-induced Parkinsonism

作　　者：廖海羚[1] 王进[2] 肖友生[2] 甘露[2] 周家彬[1] 黄坚毅[1] 薛丽虹[1] 

机构地区：[1]广西医科大学,广西壮族自治区南宁市530021 [2]广西医科大学第一附属医院

出　　处：《职业与健康》2013年第10期1168-1171,共4页Occupation and Health

基　　金：广西自然科学基金资助项目(项目编号:桂科自0728147)

摘　　要：目的探索线粒体DNA(mtDNA)点突变与锰中毒性帕金森综合征之间的关系,为揭示锰中毒性帕金森综合征的发病机制提供依据。方法试验分锰中毒组、锰接触组和正常组,分别提取各组DNA,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例患者及30例锰接触未发病患者和30名健康对照组的mtDNA的细胞色素C氧化酶所在片段进行分析。结果在3组88例研究对象中发现有19例存在mtDNA8281～8289(ccccctcta)9bp片段缺失,组间差异无统计学意义(P>0.05);在锰中毒组中发现有8例存在7028C>T,1例存在8119T>C,6例存在8344A>C,2例存在9540T>C点突变;与锰接触组、正常组7028C>T、8344A>C点突变率差异具有统计学意义(P<0.05),8119T>C、9540T>C点突变率差异无统计学意义(P>0.05)。结论线粒体DNA点突变与锰中毒性帕金森综合征有关。[Objective]To explore the correlation between mitochondrial DNA（mtDNA） point mutation and manganese-induced parkinsonism,and provide basis for revealing the pathogenesis of manganese-induced parkinsonism.[Methods]Twenty-eight patients with manganese-induced parkinsonism（manganese poisoning group）,30 patients with manganese exposure and no onset（manganese poisoning group）,and 30 healthy controls（normal group） were enrolled in this study,and their DNA were collected.Polymerase chain reaction（PCR）,single strand conformation polymorphism（SSCP）,sequencing method were applied to analyze the segment of mtDNA on which Cytochrome C oxidase located.[Results] Of all 88 cases in 3 groups,19 had mtDNA8281-8289（ccccctcta）9bp deletions,without significant difference between groups（P0.05）.The manganese poisoning group was found point mutation on 8 cases at 7028CT,1 at 8119TC,6 at 8344AC,2 at 9540T C.Compared with point mutation at 7028CT and 8344AC of manganese poisoning group and normal group,the differences were significant（P0.05）.The difference of point mutation at 8119TC and 9540TC was not significantly different（P0.05）.[Conclusion]Mitochondrial DNA point mutation was correlated with manganese toxicity parkinsonism.

关 键 词：锰中毒 帕金森综合征 线粒体DNA 点突变 相关性 

分 类 号：R595.2[医药卫生—内科学]