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阿尔茨海默病的遗传易感性。

Genetic susceptibility to Alzheimer disease.

作者信息

Pericak-Vance M A, Haines J L

机构信息

Duke University Medical Center, Division of Neurology, Durham, NC 27710, USA.

出版信息

Trends Genet. 1995 Dec;11(12):504-8. doi: 10.1016/s0168-9525(00)89161-1.

DOI:10.1016/s0168-9525(00)89161-1
PMID:8533168
Abstract

Alzheimer disease (AD) is the leading cause of dementia in the elderly. Less than a decade ago, it was questioned as to whether or not genes were even involved in anything but rare early onset AD. Since that time, using a variety of genetic epidemiological and molecular biological techniques, four loci have been identified that play a role in the genetic susceptibility of AD. AD presents as a prototype of the power of genetic techniques in defining the etiology of a complex disease.

摘要

阿尔茨海默病(AD)是老年人痴呆症的主要病因。不到十年前,人们还在质疑基因是否仅与罕见的早发性AD有关,而与其他情况无关。从那时起,通过使用各种遗传流行病学和分子生物学技术,已经确定了四个在AD遗传易感性中起作用的基因座。AD成为了遗传技术在确定复杂疾病病因方面强大作用的一个典范。

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Genetic susceptibility to Alzheimer disease.阿尔茨海默病的遗传易感性。
Trends Genet. 1995 Dec;11(12):504-8. doi: 10.1016/s0168-9525(00)89161-1.
2
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Genetic associations between cathepsin D exon 2 C-->T polymorphism and Alzheimer's disease, and pathological correlations with genotype.组织蛋白酶D外显子2 C→T多态性与阿尔茨海默病之间的遗传关联以及与基因型的病理相关性。
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Hypothesis: microtubule instability and paired helical filament formation in the Alzheimer disease brain are related to apolipoprotein E genotype.假设:阿尔茨海默病大脑中的微管不稳定性和双螺旋丝形成与载脂蛋白E基因型有关。
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Arch Neurol. 1998 Mar;55(3):294-6. doi: 10.1001/archneur.55.3.294.

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