Parkin基因R/W366及V/L380多态性与散发性帕金森病  

The association between V/L380 and R/W366 polymorphisms in Parkin gene and sporadic Parkinson's disease.

作　　者：宁玉萍[1] 徐严明[1] 王玉凯[1] 刘焯霖[1] 

机构地区：[1]中山医科大学附属第一医院神经科,广州510080

出　　处：《中国神经精神疾病杂志》2002年第1期17-19,共3页Chinese Journal of Nervous and Mental Diseases

基　　金：中山医科大学 2 1 1工程建设项目 (编号 :1 999981 1 9)

摘　　要：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 polymorphisms in Parkin gene and susceptibility to sporadic Parkinsons disease(PD). Methods The genotypes and allels of V/L380 and R/W366 polymorhisms in 120 PD patients and 120 normal controls were analyzed by PCR amplification and restriction endonuclease digestion. Results The R/W366 frequency was significantly lower in PD group (continuity correction χ 2=4.076, P<0 05 ) There was an association between V/L380 polymorhism and susceptibility to sporadic PD for female ( χ 2=4 45, P=0 03, OR=2 49 ), while no association between V/L380 polymorhism and the age of onset was found.Conclusions Our finding suggests that R/W366 polymorhism may be a protective factor against PD, and V/L380 polymorhism is associated with an increased risk for female sporadic PD.

关 键 词：散发性帕金森病 PARKIN基因 基因多态性 R/W366 V/L380 

分 类 号：R742.5[医药卫生—神经病学与精神病学]