PARK18基因多态性与中国汉族人帕金森病的相关性  

Association between PARK18 gene polymorphisms and Parkinson＇s disease in Han China population

作　　者：周莉莉[1] 包琼琼[1] 刘云[1] 庄晓赛[1] 胡乔[1] 孙妙璇[1] 胡艳兵[1] 张雄[1] 

机构地区：[1]温州医学院附属第二医院神经内科,325027

出　　处：《浙江医学》2013年第4期259-260,295,共3页Zhejiang Medical Journal

摘　　要：目的研究PARK18基因多态性与中国汉族人群帕金森病（PD）的相关性，旨在探讨PD的发病机制，为PD的风险预测提供新的遗传标记。方法选取224例PD患者（PD组）及同期体检健康者309例（对照组），采用PCR,DNA测序等方法检测比较两组PARK18基因多态性位点，分析rs3129882与PD遗传易感性的相关性。结果两组对象rs3129882基因型频率和等位基因频率分布的差异均无统计学意义（均P〉O．05）。rs3129882多态性与PD发生风险的关联性在3种遗传模式下均无统计学意义（均P〉0．05）。结论本研究暂不支持中国汉族人群中PARK18区域rs3129882位点单核苷酸多态性与PD的发生有显著关联性。Objective To investigate whether PARK18 gene polymorphism is associated with Parkinson＇s disease （PD） in Han Chinese population. Methods Polymerase chain reaction （PCR） and sequencing analysis were employed to determine the genotype of 224 PD patients and 309 age-matched healthy controls. The representative SNP rs3129882 in PARKI8 was analyzed and the role of rs3129882 in PD was assessed with dominant, recessive and additive model. Results No significant difference was found in allelic frequencies or genotypic distributions among different subsets of patients （P 〉0.05）. No association between rs3129882 and the risk of PD was detected under dominant, recessive and additive model （P 〉0.05）. Conclusion No evidence shows that PARK18 gene rs3129882 polymorphisms are associated with Parkinson＇s disease in Han Chinese population in the current study.

关 键 词：帕金森病PARKl8 rs3129882多态性疾病遗传易感性 

分 类 号：R733.7[医药卫生—肿瘤]