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当代阿耳茨海默病研究

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ISSN (Print): 1567-2050
ISSN (Online): 1875-5828

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Research Article

阿尔茨海默氏病及其相关疾病的独特和复发拷贝数变异的综合分析

卷 17, 期 10, 2020

页: [926 - 938] 页: 13

弟呕挨: 10.2174/1567205017666201130111424

价格: $65

摘要

背景：拷贝数变异（CNV）在包括阿尔茨海默氏病（AD）在内的各种神经系统疾病的遗传病因中起着重要作用。 2型糖尿病（T2DM）和重度抑郁症（MDD）与AD具有共同的机制和信号传导途径。 目的：我们旨在评估CNVs区域，这些区域可能包含67位沙特家族和散发性AD患者的AD，T2DM和MDD贡献基因，而AD的已知基因和以前的APOE基因型没有改变。 方法：使用CytoScan-HD阵列分析DNA。应用了两层过滤标准。在基因组变异数据库（DGV）中检查了所有已识别的CNV。 结果：在我们的研究中，共鉴定出1086枚CNV（565增益和521损失）。我们发现73个CNV含有可能与AD，T2DM或MDD相关的基因。 19台CNV是新颖的。最重要的是，在我们的研究队列中仅一例患者就有42例CNV。 1号和13号染色体上的两个大收获带有与所研究的疾病有关的基因。我们在编码参与淀粉样β肽代谢的蛋白质（AGRN，APBA2，CR1，CR2，IGF2R，KIAA0125，MBP，RER1，RTN4R，VDR和WISPI）的基因中鉴定了CNV，或Tau蛋白（CACNAIC，CELF2，DUSP22， HTRA1和SLC2A14）。 结论：目前的工作提供了有关沙特阿尔茨海默氏病患者中与AD，T2DM和MDD相关的CNV的信息。

关键词: 阿尔茨海默氏病，拷贝数变异，2型糖尿病，重度抑郁症，独特和复发性变异，痴呆。

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