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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

中国东南地区早发性AD家族的早老素1和APP基因突变

卷 17, 期 6, 2020

页: [540 - 546] 页: 7

弟呕挨: 10.2174/1567205017666200624195809

价格: $65

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摘要

背景：据报道，家族性早老性家族性阿尔茨海默氏病（EOFAD）与早老素1（PSEN1），早老素2（PSEN2）和淀粉样前体蛋白（APP）基因相关。 很少研究中国EOFAD患者的突变谱。 目的：探讨中国人群EOFAD患者的突变谱。 方法：我们对3个EOFAD家族的67位受试者进行了全外显子组测序并描述了相关的临床特征。 结果：鉴定出PSEN1中的剪接突变（p.S290C）和APP中的错义突变（p.V717I）。 结论：变体p。 与欧洲人相比，中国EOAD家族中PSEN1的S290C（c.869-2

关键词: 背景：据报道，家族性早老性家族性阿尔茨海默氏病（EOFAD）与早老素1（PSEN1），早老素2（PSEN2）和淀粉样前体蛋白（APP）基因相关。 很少研究中国EOFAD患者的突变谱。 目的：探讨中国人群EOFAD患者的突变谱。 方法：我们对3个EOFAD家族的67位受试者进行了全外显子组测序并描述了相关的临床特征。 结果：鉴定出PSEN1中的剪接突变（p.S290C）和APP中的错义突变（p.V717I）。 结论：变体p。 与欧洲人相比，中国EOAD家族中PSEN1的S290C（c.869-2

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