本文選題：群發(fā)性帕金森病 + 帕金森病家系��； 參考：《新疆醫(yī)科大學》2014年碩士論文

【摘要】：目的：研究α-Synuclein (SNCA)基因A53T位點突變、A30P位點突變與一個群發(fā)性帕金森病家系的關系,進而探討該家系帕金森病的發(fā)病病因,是否與遺傳因素相關。方法：該家系病史特點為其父為當?shù)剞r(nóng)藥商人,他們共同特點有長期農(nóng)藥接觸史(其中有百草枯和有機磷農(nóng)藥)。對該家系3例患者及3位成員進行系統(tǒng)的臨床檢查明確診斷原發(fā)性帕金森病后,提取該家族患者及健康人的靜脈血,提取人類白細胞組DNA后,通過聚合酶鏈反應技術(PCR)對SNCA的A53T,A30P位點進行檢測,明確是否有上述位點的突變。結(jié)果：所有研究對象的SNCA基因外顯子3(exon3)PCR擴增后的片段長度為192bp,經(jīng)特異性內(nèi)切酶MvaI充分反應后未能發(fā)現(xiàn)A30P突變。SNCA基因(外顯子4)‘;xon4PCR擴增后的片段經(jīng)特異性內(nèi)切酶Tsp45I充分反應后未能發(fā)現(xiàn)A53T突變。結(jié)論：SNCA基因A30P、A53T點突變可能不是該家系患帕金森病的易感因素,而是與該家系長期接觸農(nóng)藥相關,或與其它基因相互作用。
[Abstract]:Objective: to study the relationship between the A53T locus mutation of 偽 -Synuclein siRNA gene and a pedigree with generalized Parkinson's disease, and to explore the etiology of Parkinson's disease in this family and whether it is related to genetic factors. Methods: the family had a history of paraquat and organophosphorus pesticides (including paraquat and organophosphorus pesticides). Their father was a local pesticide merchant and they had a long history of pesticide exposure (including paraquat and organophosphorus pesticides). After the diagnosis of primary Parkinson's disease was confirmed by systematic clinical examination of 3 patients and 3 members of the family, the venous blood of the family and the healthy persons were extracted, and the DNA of the human leukocyte group was extracted. The A53TX A30P locus of SNCA was detected by polymerase chain reaction (PCR). Results: the length of PCR amplified SNCA gene exon 3exon 3o was 192bp.After sufficient reaction of specific endonuclease MvaI, A30P mutation. SNCA gene was not found. (exon 4xon4PCR amplified fragment was amplified by specific endonuclease). The mutation of A53T was not found in Tsp45I after full reaction. Conclusion the point mutation of the gene A30PN-A53T may not be a predisposing factor for Parkinson's disease, but may be related to long-term pesticide exposure or interaction with other genes in the family.
【學位授予單位】：新疆醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R742.5

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本文編號：1997114