Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease

被引：0
作者：
Elin S Blom
Jayashree Viswanathan
Lena Kilander
Seppo Helisalmi
Hilkka Soininen
Lars Lannfelt
Martin Ingelsson
Anna Glaser
Mikko Hiltunen
机构：
[1] Section of Molecular Geriatrics,Department of Public Health and Caring Sciences
[2] Uppsala University,Department of Neuroscience and Neurology
[3] University of Kuopio,undefined
来源：
European Journal of Human Genetics | 2008年 / 16卷
关键词：
early-onset Alzheimer's disease; amyloid beta precursor protein; gene dose; APP; duplication;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Familial early-onset Alzheimer's disease with cerebral amyloid angiopathy (EOAD/CAA) was recently associated with duplications of the gene for the amyloid-β 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.
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页码：171 / 175
页数：4
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