Parkin 基因多态性与散发性帕金森病关系的研究

目的探讨Parkin基因S/N 167多态性与散发性帕金森病(PD)的遗传易感性之间的关系.方法以120例散发性PD患者为研究对象,分为早发性PD组和晚发性PD组,120名正常人作为对照.采用聚合酶链式反应(PCR)扩增所需DNA片段,用限制性内切酶酶切技术测定所研究对象的基因型和等位基因.比较各组间基因型及等位基因频率的差异.结果 PD组与对照组S/N 167多态性等位基因频率无显著性差异(P>0.05);早发性PD组S/N 167多态性等位基因频率显著高于对照组和晚发性PD组(均P<0.05).结论Parkin基因S/N 167多态性可能是早发性PD的危险因素,其患PD的危险性较对照组增高1.69倍.

The study of relationship between polymorphism in Parkin gene and sporadic Parkinson''''s disease

Objective To investigate the relationship between polymorphism in the Parkin gene and hereditary susceptibility of sporadic Parkinson' disease(PD) .Methods The genotype and allele of S/N167 polymorphism in 120 PD patients and 120 controls were analized by way of PCR amplification and restriction endonuclease digestion. 120 PD patients were divided into early onset and late onset groups respectively. Compare the genotype and allele frequency between PD and control and their subgroups. Results There is no significant difference in S/N167 polymorphism between PD group and control group ( P > 0.05); The allele frequency in S/N167 was significantly higher in early-onset PD group than that in control group and late-onset PD group( P < 0.05 respectively) .Conclusion S/N167 polymorphism may be a risk factor for early-onset PD cases, it increased the risk by 1.69 times.