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| 阿尔茨海默病PS-1基因突变的研究 | |
| 引用本文： | 郑翠芳,林红,吴文珊,周美英,陈骐. 阿尔茨海默病PS-1基因突变的研究[J]. 福建师范大学学报(自然科学版), 2006, 22(4): 83-87 |
| 作者姓名： | 郑翠芳 林红 吴文珊 周美英 陈骐 |
| 作者单位： | 1. 福建师范大学生命科学学院,福建,福州,350007 2. 福建医科大学附属第一医院,福建,福州,350001 3. 萨克生物研究学院细胞与神经生物学实验室,加利福尼亚州,圣地亚哥,92037 |
| 摘 要： | 采用聚合酶链反应及基因测序技术探讨阿尔茨海默病（Alzheimer病，AD）早老素-1（Presenilin-1，PS-1）基因第3、4、5、8外显子的突变特点，对13例散发性Alzheimer病（sporadic Alzheimer＇s disease，SAD）患者、12例血管性痴呆（vascular demendia，VD）患者及31名正常老年人的PS-1基因第3、4、5、8外显子片段进行扩增与序列分析．编号为SAD5的患者PS-1基因第3外显子扩增片段上存在1个缺失突变位点，编号为SAD3的患者PS-1基因第8外显子扩增片段的近3’端处发现2个插入突变位点．12例VD患者与31名正常老年人的PS-1基因第3、4、5、8外显子均未发现突变．实验结果表明，SAD患者PS-1基因中存在第3、第8外显子的突变． |
| 关 键 词： | 阿尔茨海默病 早老素-1基因 外显子3、4、5、8 突变 |
| 文章编号： | 1000-5277（2006）04-0083-05 |
| 收稿时间： | 2006-03-28 |
| 修稿时间： | 2006-03-28 |
The Test of Mutations of PS-1 Gene in Alzheimer''''s Disease |
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| ZHENG Cui-fang,LIN Hong,WU Wen-shan,ZHOU Mei-ying,CHEN Qi. The Test of Mutations of PS-1 Gene in Alzheimer''''s Disease[J]. Journal of Fujian Teachers University(Natural Science), 2006, 22(4): 83-87 | |
| Authors: | ZHENG Cui-fang LIN Hong WU Wen-shan ZHOU Mei-ying CHEN Qi |
| Affiliation: | 1. College of Life Sciences, Fujian Normal University, Fuzhou 350007, China; 2. Department of Neuromedicine, Fujian Affiliated Hospital, Fujian Medical University, Fuzhou 350001, China; 3. Cellular Neurobiology Laboratory the Salk Institute for Biological Studies, CA 92037, USA |
| Abstract: | To detect the mutations of PS-1 of thirteen Chinese patients with sporadic Alzheimer disease(SAD) and others.Genomic DNAs were isolated from the peripheral blood of the thirteen patients with SAD and twelve patients with VD and thiety one the healthy elderly.Using polymerase chain reaction (PCR) and sequencing technique,the exon3,4,5,8 of their PS-1 were analyzed.There were not mutations on exon4 and exon5 of all samples.But one absence mutations of exon3 and two insert mutations of exon8 was found.It is suggestion that there are mutations on exon3 and exon8 in PS-1 of SAD. |
| Keywords: | Alzheimer's disease PS-1 exon3 4 5 8 mutations |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |