一个群发性帕金森病家系α-Synuclein基因的研究

发布时间：2018-06-08 21:08

本文选题：群发性帕金森病 + 帕金森病家系　；参考：《新疆医科大学》2014年硕士论文

【摘要】：目的：研究α-Synuclein (SNCA)基因A53T位点突变、A30P位点突变与一个群发性帕金森病家系的关系,进而探讨该家系帕金森病的发病病因,是否与遗传因素相关。方法：该家系病史特点为其父为当地农药商人,他们共同特点有长期农药接触史(其中有百草枯和有机磷农药)。对该家系3例患者及3位成员进行系统的临床检查明确诊断原发性帕金森病后,提取该家族患者及健康人的静脉血,提取人类白细胞组DNA后,通过聚合酶链反应技术(PCR)对SNCA的A53T,A30P位点进行检测,明确是否有上述位点的突变。结果：所有研究对象的SNCA基因外显子3(exon3)PCR扩增后的片段长度为192bp,经特异性内切酶MvaI充分反应后未能发现A30P突变。SNCA基因(外显子4)‘;xon4PCR扩增后的片段经特异性内切酶Tsp45I充分反应后未能发现A53T突变。结论：SNCA基因A30P、A53T点突变可能不是该家系患帕金森病的易感因素,而是与该家系长期接触农药相关,或与其它基因相互作用。
[Abstract]:Objective: to study the relationship between the A53T locus mutation of 伪 -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.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R742.5

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