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Failure to detect missense mutations in the S182 gene in a series of late-onset Alzheimer's disease cases.

作者信息

Tsuda T, Chi H, Liang Y, Rogaeva E A, Sherrington R, Levesque G, Ikeda M, Rogaev E I, Pollen D, Freedman M

机构信息

Department of Medicine, Centre for Research in Neurodegenerative Diseases, University of Toronto, Canada.

出版信息

Neurosci Lett. 1995 Dec 8;201(2):188-90. doi: 10.1016/0304-3940(95)12170-6.

DOI:10.1016/0304-3940(95)12170-6
PMID:8848249
Abstract

The possibility of an interaction of multiple genes has been speculated in pathogenesis of Alzheimer's disease (AD). Because we have recently cloned a novel gene S182 bearing five different missense mutations which segregate with early-onset familial AD, we sought the frequency of these mutations in familial and sporadic late-onset AD to clarify the incidence of these mutations in the disease. The current study showed lack of these mutations in 118 independent subjects affected with late-onset Alzheimer's disease.

摘要

相似文献

1
Failure to detect missense mutations in the S182 gene in a series of late-onset Alzheimer's disease cases.
Neurosci Lett. 1995 Dec 8;201(2):188-90. doi: 10.1016/0304-3940(95)12170-6.
2
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.与3型阿尔茨海默病基因相关的1号染色体上一个基因发生错义突变的家族性阿尔茨海默病家系。
Nature. 1995 Aug 31;376(6543):775-8. doi: 10.1038/376775a0.
3
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.早老素1(S182)基因的结构及早发性阿尔茨海默病家系中六个新突变的鉴定。
Nat Genet. 1995 Oct;11(2):219-22. doi: 10.1038/ng1095-219.
4
Molecular analysis of the presenilin 1 (S182) gene in "sporadic" cases of Alzheimer's disease: identification and characterisation of unusual splice variants.散发性阿尔茨海默病病例中早老素1(S182)基因的分子分析:异常剪接变体的鉴定与特征分析
J Neurochem. 1996 Apr;66(4):1774-7. doi: 10.1046/j.1471-4159.1996.66041774.x.
5
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.早发性家族性阿尔茨海默病中一个携带错义突变基因的克隆
Nature. 1995 Jun 29;375(6534):754-60. doi: 10.1038/375754a0.
6
Candidate gene for the chromosome 1 familial Alzheimer's disease locus.1号染色体家族性阿尔茨海默病位点的候选基因。
Science. 1995 Aug 18;269(5226):973-7. doi: 10.1126/science.7638622.
7
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.与14号染色体q24.3区域相关的家族性早发型阿尔茨海默病的分子遗传学分析。
Hum Mol Genet. 1995 Dec;4(12):2363-71. doi: 10.1093/hmg/4.12.2363.
8
A presenilin 1 mutation in an early onset Alzheimer's family: no association with presenilin 2.早发性阿尔茨海默病家族中的早老素1突变:与早老素2无关联。
Neuroreport. 1996 Aug 12;7(12):2018-20. doi: 10.1097/00001756-199608120-00033.
9
Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.西班牙早发性阿尔茨海默病中早老素和淀粉样前体蛋白基因突变的频率。
Arch Neurol. 2002 Nov;59(11):1759-63. doi: 10.1001/archneur.59.11.1759.
10
[Presenilin-1 (S182) causative gene of early-onset familial Alzheimer's disease].
Tanpakushitsu Kakusan Koso. 1996 Aug;41(10):1441-7.

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