Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease
Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease
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DOI：
10.1038/sj.ejhg.5201966
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发表时间：
2008-02-01
影响因子：
5.2
通讯作者：
Hiltunen, Mikko
中科院分区：
文献类型：
--
作者：
Blom, Elin S.;Viswanathan, Jayashree;Hiltunen, Mikko
家族性早发性阿尔茨海默病伴脑淀粉样血管病（EOAD/CAA）最近与淀粉样β前体蛋白（APP）基因重复有关。在这项研究中，我们筛选了来自瑞典和芬兰的EOAD患者的APP重复。采用定量PCR方法对75例EOAD患者和66例无家族遗传史的EOAD患者进行筛查。在初步结果的基础上，还对部分样品进行了定量多重PCR研究。没有发现APP的重复，由此我们得出结论，这不是瑞典和芬兰人群中EOAD的常见原因，至少在我们收集的家庭和病例中不是。
Familial early-onset Alzheimer's disease with cerebral amyloid angiopathy (EOAD/CAA) was recently associated with duplications of the gene for the amyloid-beta precursor protein (APP). In this study, we have screened for duplications of APP in patients with EOAD from Sweden and Finland. Seventy-five individuals from families with EOAD and 66 individuals with EOAD without known familial inheritance were screened by quantitative PCR. On the basis of the initial results, a portion of the samples was also investigated with quantitative multiplex PCR. No duplications of APP were identified, whereby we conclude that this is not a common cause of EOAD in the Swedish and Finnish populations, at least not in our collection of families and cases.