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阿尔茨海默病及帕金森病相关基因突变位点的研究进展 被引量：5

Research progress on the genetic mutations in Alzheimer′s disease and Parkinson′s disease
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摘要 医学技术的迅速发展使得精准医学的概念应运而生，对基因遗传变异疾病的准确分析有利于疾病精准预测、精准诊断及靶向治疗。阿尔茨海默病及帕金森病是两种最常见的神经退行性疾病。（中华检验医学杂志，2016，39：540－543） With the rapid development of medical technology , the precision medicine appears .The accurate analysis of the genetic mutations provides the accuracy of diseasesis prediction diagnosis and targeted therapy.Alzheimer′s disease and Parkinson′s disease are two of the most common neurodegenerative diseases.
作者 张跃其 张强 王丽凤 吴燕丹 王培昌
机构地区 首都医科大学宣武医院检验科 北京顺义区医院检验科
出处 《中华检验医学杂志》 CAS CSCD 北大核心 2016年第7期540-543,共4页 Chinese Journal of Laboratory Medicine
关键词 阿尔茨海默病 帕金森病 神经变性疾病 Alzheimer disease Parkinson′s disease Neurodegenerative diseases
分类号 R749.16 [医药卫生—神经病学与精神病学]
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参考文献31

  • 1Liu G, Jiang Y, Wang P, et al. Cell adhesion molecules contribute to Alzheimer's disease: multiple pathway analyses of two genome-wide association studies [ J ]. Journal of Neurochemistry, 2012, 120(1): 190-198.
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二级参考文献11

  • 1Bonifati V, Rizzu P, van Baren MJ, etal. Mutations in the DJ1 geneassociated with autosomal recessive early-onset parkinsonism. Science, 2003,299: 256-259.
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  • 4Hedrich K, Djarmati A, Schafer N, et al. DJ1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology, 2004,62: 389-394.
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  • 6Lockhart PJ, Bounds R, Hulihan M, et al. Lack of mutations in DJ1 in a cohort of Taiwan Residents ethnic Chinese with early-onset parkinsonism. Mov Disord, 2004,19:1065-1069.
  • 7Tan EK, Tan C, Zhao Y, et al. Genetic analysis of DJ1 in a cohort Parkinson's disease patients of different ethnicity. Neurosci Lett, 2004,367:109-112.
  • 8Morris CM, O'Brien KK, Gibson AM, et al. Polymorphism in the human DJ1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease. Neurosci Left, 2003, 352:151-153.
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  • 10Macedo MG, Anar B, Bronner IF, et al. The DJ1 L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher order protein complexes. Hum Mol Genet,2003,12:2807-2816.

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中华检验医学杂志
2016年 第7期

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