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目的探讨线粒体DNA(mtDNA)基因突变与锰中毒性帕金森综合征之间的关系,以了解其是否为锰中毒性帕金森综合征发病中的一环。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18例患者和40名健康对照组的mtDNA点8344、11778及12SrRNA区域所在片段进行分析。结果有15例存在mtDNA 9bp片段缺失;在锰中毒性帕金森综合征患者中发现有4例存在mtDNA8175G>A点突变、3例存在mtDNA11914G>A点突变;所有研究对象均未检测到mtDNA点8344、11778及12SrRNA区域突变。结论广西人群mtDNA 9bp缺失率较高(25.9%);mtDNA 8175G>A和mtDNA 11914G>A点突变可能为锰中毒性帕金森综合征的1个致病突变;mtDNA点8344、11778及12SrRNA区域突变可能不是锰中毒性帕金森综合征的突变热点。
Objective To investigate the relationship between mitochondrial DNA (mtDNA) gene mutation and manganese poisoning Parkinsonism in order to understand whether it is a part of the pathogenesis of manganese poisoning Parkinsonism. Methods Using polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) and sequencing methods, mtDNA spots of 8344 and 11778 in 18 patients with clinically diagnosed manganese poisoning Parkinsonism and 40 healthy controls And 12SrRNA region fragment analysis. Results The mtDNA 9bp fragment was deleted in 15 cases. There were 4 cases of mtDNA8175G> A point mutation and 3 cases of mtDNA11914G> A point mutation in all the patients with manganese-poisoning Parkinsonism. No mtDNA spots were detected in all the study subjects , 11778 and 12SrRNA region mutations. Conclusions The deletion rate of mtDNA 9bp in Guangxi population is high (25.9%). Mutations of mtDNA 8175G> A and mtDNA 11914G> A may be one causative mutation in manganese-induced Parkinson’s disease. Mutations of mtDNA 8344, 11778 and 12SrRNA May not be a hot spot for mutations in manganese-poisoning Parkinsonism.