CAJ | 학술논문

目的探讨α-突触核蛋白(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(其中包括百草枯和有机磷农药).对该家系3例患者及3例正常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4号外显子(Exon4) A53T位点及3号外显子(Exon3)上的A30P位点进行扩增,扩增后的产物经限制性内切酶反应多肽技术充分反应,限制性内切酶消化后的产物经紫外线凝胶电泳成像仪分析是否存在基因突变.结果所有研究对象的SNCA基因Exon3经PCR扩增后的片段长度为192 bp,经特异性限制性内切酶Mva Ⅰ充分消化后,凝胶电泳成像结果为单一条带,即未发现A30P突变.SNCA基因Exon4经PCR扩增后的片段长度为216 bp,经限制性内切酶Tsp45 Ⅰ充分反应后,凝胶电泳成像结果为单一条带,即未发现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,或与其他基因相互作用.
목적 탐토α-돌촉핵단백(SNCA)기인A53T위점돌변、A30P위점돌변여일개군발성파금삼병가계적관계,진이탐토해가계파금삼병적발병병인시부여유전인소상관.방법 해가계병사특점기부위당지농약상인,타문공동특점유장기농약접촉사(기중포괄백초고화유궤린농약).대해가계3례환자급3례정상성원진행계통적림상검사명학진단원발성파금삼병후,제취해가족환자급건강인적정맥혈,제취인류백세포조DNA후,통과취합매련반응기술(PCR)대SNCA적4호외현자(Exon4) A53T위점급3호외현자(Exon3)상적A30P위점진행확증,확증후적산물경한제성내절매반응다태기술충분반응,한제성내절매소화후적산물경자외선응효전영성상의분석시부존재기인돌변.결과 소유연구대상적SNCA기인Exon3경PCR확증후적편단장도위192 bp,경특이성한제성내절매Mva Ⅰ충분소화후,응효전영성상결과위단일조대,즉미발현A30P돌변.SNCA기인Exon4경PCR확증후적편단장도위216 bp,경한제성내절매Tsp45 Ⅰ충분반응후,응효전영성상결과위단일조대,즉미발현A53T돌변.결론 SNCA기인A30P、A53T점돌변가능불시해가계환파금삼병적역감인소,이시여해가계장기접촉농약상관,혹여기타기인상호작용.
Objective Discussion α-synuclein (SNCA) gene locus mutation A53T,A30P point mutation associated with a mass sexual relationship Parkinson pedigrees,and then explore the pedigree of the etiology of Parkinson' s disease,is associated with genetic factom.Methods The family history characteristics of the parent pesticide local businessmen,they have a long history of common characteristics of pesticide exposure (including paraquat and organophosphorus pesticides).After the 3 patients and 3 normal members of the family system of clinical examination to confirm the diagnosis of idiopathic Parkinson' s disease,to extract the blood of patients and healthy people in the family,human leukocyte group extracted DNA,by polymerase chain reaction A30P sites polymerase chain reaction (PCR) for SNCA the fourth exon (Exon4) A53T sites and exon Ⅲ (Exon3) on the amplified product amplified by restriction endonuclease reaction polypeptide technical sufficient reaction,restriction SNCA gene Exon3 all subjects by PCR amplified fragment length of 192 bp,through specific restriction endonuclease MvaⅠ in the fully digested,gel electrophoresis as a single band of the imaging result,which is not found A30P mutation.Results The SNCA gene Exon4 PCR amplified fragment length of 216 bp,after restriction endonuclease Tsp451 sufficient reaction,gel electrophoresis,a single band imaging result,the A53T mutation was not found.Conclusion SNCA gene A30P,A53T point mutation in the family may not be suffering from Parkinson' s disease risk factors,but long-term exposure to pesticides associated with the family,or interaction with other genes.