Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients

被引:43
作者
Tanahashi, H
Kawakatsu, S
Kaneko, M
Yamanaka, H
Takahashi, K
Tabira, T
机构
[1] YAMAGATA UNIV, FAC MED, DEPT PSYCHIAT, YAMAGATA 99023, JAPAN
[2] NISHIHAMAMATSU MED CTR, HAMAMATSU, SHIZUOKA 432, JAPAN
关键词
Alzheimer's disease; presenilin; missense mutation;
D O I
10.1016/S0304-3940(96)13138-4
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
The mutations of presenilins (PSs) gene and their clinicopathological correlations to Alzheimer's disease (AD) have lately attracted considerable attention. In this report we analyzed fifteen Japanese familial Alzheimer's disease (FAD) including 12 early-onset FAD and 13 sporadic AD patients for the mutation of PS-1 gene by direct sequence analysis. We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N141I or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene. Families in which we failed ro find the mutation by this screening may have mutations elsewhere in PSs or in APP gene, or yet unidentified other AD loci may exist. This is the first report to find a sporadic AD patient having PS-1 mutation.
引用
收藏
页码:139 / 141
页数:3
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