UCH-L1基因多态性与帕金森病的关联研究  

Association of the ubiquitin carboxy-terminal hydrolase-L1 genetic polymorphism with the susceptibility of Parkinson＇s disease

作　　者：肖颖[1] 张本恕[1] 

机构地区：[1]天津医科大学总医院神经内科,300052

出　　处：《中华医学遗传学杂志》2008年第5期586-587,共2页Chinese Journal of Medical Genetics

摘　　要：目的探讨泛素蛋白羧基水解酶L1（ubiquitin carboxy-terminal hydrolase—L1，UCH—L1）基因第3外显子54C／A及第4外显子277C／G多态与中国北方汉族人群散发性帕金森病（Parkinson’s disease，PD）的关联。方法应用聚合酶链反应-限制性片段长度多态性方法，对75例散发性PD和100名健康对照者UCH-LI C／A和C／G两个位点的基因型和等位基因分布频率进行检测。结果（1）UCH-LI C／A位点等位基因和基因型分布，在PD与对照组间差异有统计学意义（P〈0．05），PD组的A等位基因和AA基因型明显低于对照组（P〈0．05）。（2）在对散发性PD与对照组UCH-L1基因分析中，未发现C／G的多态性。结论（1）UCH-LI C／A基因多态性与中国北方汉族人群散发性PD患者遗传易患性有关。（2）UCH-LIC C/G基因多态性与中国北方汉族人群散发性PD患者遗传易患性不关联。Objective To study the association of two polymorphisms of ubiquitin carboxy-tenninal hydrolase- L1 gene（ UCH-L1 ）, the 54C/A in exon 3 and the 277C/G in exon 4, with sporadic Parkinson＇ s disease（PD） in Hans from North China. Methods Polymerase chain reaction-restriction fragment length po]ymorphism was used to investigate the genotype and allele frequencies of the UCH-L1 C/A and C/G loci, in a ease-control study including 75 sporadic PD and 100 randomly selected healthy control subjects. Results （1）There was significant difference between PD patients and controls in the frequencies of UCH-L1 genotype and C/A allele（ P 〈 0.05）. The frequencies of allele A and geno- type AA were both signifieandy lower in PD patients than that in the controls（ P 〈 0.05 ）. （2）There was no polymorphism in the UCH-L1 C/G locus in all eases and controls. Conclusion （ 1 ）There might be association between the polymorphisms of UCH-L1 C/A locus and sporadic PD in Han population from North China. （2）There is no polymorphism in the UCH-L1 C/G locus in Hans from this region.

关 键 词：帕金森病 泛素蛋白羧基水解酶L1 外显子 

分 类 号：R686[医药卫生—骨科学]