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	帕金森病LRRK2基因单核苷酸rs34778348:G>A多态性分析; Single Nucleotide Polymorphism Analysis for LRRK2 rs34778348:G>A of Parkinson′s Disease
	李志明 ; 安兴凯 ; 林青 ; 马琪林 ; 曾骥孟
	2013-11-28
关键词	帕金森病 LRRK2 rs34778348:G>A 限制性长度多态性分析(RFLP) Parkinsons disease LRRK2 rs34778348:G>A restriction fragment length polymorphism(RFLP)
英文摘要	基因的单核苷酸多态性(SInglE nuClEOTIdE POlyMOrPHISM,SnP)是导致帕金森病(PArkInSOn′S dISEASE)发生的遗传因素之一,但受不同种族和地域的影响.通过联合使用引物重叠PCr定点突变,限制性长度多态性分析(rESTrICTIOn frAgMEnT lEngTH POlyMOrPHISM,rflP)筛查了帕金森病的重要致病基因lEuCInE-rICH rEPEAT kInASE 2(lrrk2)的突变体:rS34778348:g>A(g2385r);用毛细管电泳(CAPIllAry ElECTrOPHOrESIS,CE)技术进行验证.在237个散发性帕金森病人和190个对照者中虽然未发现rS34778348:g>A的纯合子突变,但存在rS34778348:g>A的杂合子突变,并且统计分析显示病例组与对照组rS34778348:g>A的等位基因频率(P=0.010)和基因型频率(P=0.001)差异显著.显示筛查到rS34778348:g>A可能是中国散发帕金森病易感性的风险因子.该方法有助于促进帕金森病分子诊断的临床普及.; Parkinson′s disease(PD)is a degenerative disorder of central nerve system(CNS),genetically attributed by known mutations of leucine-rich repeat kinase(LRRK2),alpha-synuclein(SNAC),PTEN-induced putative kinase 1(PINK1)etc.Single nucleotide polymorphism(SNP),rs34778348:G>A(G2385R)in LRRK2 is the most common known cause of about 5%familiar and 3%sporadic PD in Europe.In this study,site-specific mutation primer overlapping PCR,restriction fragment length polymorphism(RFLP)and capillary electrophoresis(CE)were applied to systematically analyze the risk factor,rs34778348:G>A,from 237sporadic PD patients and 190normal Chinese.24heterozygous SNP carriers out of 237(10.1%)PD patients and 4heterozygous SNP carriers out of 190(2.1%)controls were significantly detected with pvalue of 0.001and 0.010of genotype and allele frequency,respectively.It implies that rs34778348:G>A in LRRK2is a potential risk factor of PD in Chinese population.Furthermore,we established the positive control of rs34778348:G>A and mutation diagnostic standard operation procedures(SOPs)to promote the commercialization of molecular diagnosis in PD.; 福建省科技计划项目(2012D062)
语种	zh_CN
内容类型	期刊论文
源URL	[http://dspace.xmu.edu.cn/handle/2288/123425]
专题	药学院－已发表论文
推荐引用方式 GB/T 7714	李志明,安兴凯,林青,等. 帕金森病LRRK2基因单核苷酸rs34778348:G>A多态性分析, Single Nucleotide Polymorphism Analysis for LRRK2 rs34778348:G>A of Parkinson′s Disease[J],2013.
APA	李志明,安兴凯,林青,马琪林,&曾骥孟.(2013).帕金森病LRRK2基因单核苷酸rs34778348:G>A多态性分析..
MLA	李志明,et al."帕金森病LRRK2基因单核苷酸rs34778348:G>A多态性分析".(2013).

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