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目的 探讨Parkin基因V/L380及R/W36 6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 12 0例散发性PD患者为研究对象 ,12 0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。结果 PD组R/W36 6多态性等位基因频率显著低于对照组 (连续校正χ2 =4 0 76 ,P <0 0 5 ) ;而V/L380多态性与女性散发性PD的遗传易感性相关联 (χ2 =4 4 5 ,P =0 0 3,OR =2 4 9) ,与发病年龄不相关。结论 Parkin基因R/W36 6和V/L380多态性可能与散发性PD的遗传易感性相关。
Objective To investigate the relationship between the polymorphisms of Parkin gene V / L380 and R / W36 6 and the genetic predisposition of sporadic Parkinson’s disease (PD). Methods One hundred and twenty cases of sporadic PD were studied, and 120 normal controls were used as controls. The desired DNA fragments were amplified by polymerase chain reaction (PCR) and the genotypes and alleles of the investigated subjects were determined by restriction endonuclease digestion. Results The allele frequencies of R / W36 6 polymorphism in PD group were significantly lower than those in control group (continuous correction χ2 = 4076, P <0 05). The genetic susceptibility of V / L380 polymorphism to female sporadic PD (Χ2 = 445, P = 0 0 3, OR = 299), but not related to the age of onset. Conclusion The polymorphisms of Parkin gene R / W36 6 and V / L380 may be related to the genetic predisposition of sporadic PD.