| 中国汉族早发型帕金森病人群PARK2基因突变的多态性分析 |
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| 作者姓名： | 鲍远程 陈丽娟 方长水 关婷 余元勋 Huaizhou Jiang |
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| 作者单位： | 安徽中医学院第一附属医院神经内科,Department of Neurology, First Affiliated Hospital of Anhui Traditional Chinese Medical College, Hefei 230031, Anhui Province, China,Department of Neurology, First Affiliated Hospital of Anhui Traditional Chinese Medical College, Hefei 230031, Anhui Province, China,Department of Neurology, First Affiliated Hospital of Anhui Traditional Chinese Medical College, Hefei 230031, Anhui Province, China,Anhui Center for Medical Genetics, Hefei 230061, Anhui Province, China,School of International Education & Exchange, Anhui Traditional Chinese Medical College, Hefei 230031, Anhui Province, China |
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| 摘 要： | 目的 观察散发性早发帕金森病(Parkinson s disease, PD)患者遗传易感基因突变的形式和分布,探讨易感基因突变在PD发病中的可能作用。 方法 病例组由30例散发性早发帕金森患者组成。抽取病人外周血提取DNA，以基因组DNA为模板, 通过PCR扩增PARK2基因的第1、4、6、7号外显子。比对PCR产物测序后的突变情况。结果 发现样本中存在突变,在正常人中存在单核苷酸多态性(single nucleotide polymorphism, SNP)。结论 PARK2基因外显子的突变是我国散发性早发PD患者的致病原因之一。
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| 关 键 词： | 帕金森病 PARK2基因 序列变异 |
| 收稿时间： | 2009-08-05 |
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