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The α-synuclein gene microsatellite polymorphism and late-onset sporadic Parkinson's disease susceptibility
Author(s): 
Pages: 339-341
Year: Issue:  4
Journal: CHINESE JOURNAL OF MEDICAL GENETICS

Keyword:  晚发性散发性帕金森病α-共核蛋白基因微卫星多态性关联研究;
Abstract: 目的探讨α-共核蛋白基因启动子区微卫星多态与晚发散发性帕金森病 (Parkinson's disease,PD)发病风险间的关系. 方法采用扩增片段长度多态方法和微卫星荧光标记-半自动基因分型技术,对上海汉族135例晚发性散发性PD患者和170名正常人进行α-共核蛋白基因微卫星多态分析,并通过比值比(odds ratios,OR)与PD进行相关分析. 结果病例-对照组间各等位基因频率分布差异有显著性(χ2=14.73,df=7,P=0.04).PD组269 bp等位基因频率最高(0.389),对照组中271 bp等位基因频率最高(0.359).≤267 bp等位基因与PD呈正关联(OR=5.228,95%CI:1.248~27.202,χ2=6.416,P=0.011),而273 bp等位基因与PD呈负关联(OR=0.638,95%CI:0.440~0.926,χ2=5.644,P=0.018);病例-对照组间各基因型的分布差异无显著性(χ2=16.368,df=12,P=0.175).但含有≤267 bp等位基因的基因型可增加PD的发病风险(OR=4.594,95%CI:0.94~22.49,χ2=4.224,P=0.04).PD组杂合度为40%,对照组为50%. 结论α-共核蛋白基因启动子区的微卫星多态与晚发性散发性PD的发病风险有关.
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