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| 阿尔茨海默病患者早老素-1基因第3外显子突变分析 | |
| 引用本文： | 郑翠芳,吴松鹰,张海鸥,林红,吴莹莹.阿尔茨海默病患者早老素-1基因第3外显子突变分析[J].福建医科大学学报,2006,40(4):381-383. |
| 作者姓名： | 郑翠芳 吴松鹰 张海鸥 林红 吴莹莹 |
| 作者单位： | 1. 福建师范大学,生命科学学院,福州,350007 2. 福建省第二人民医院,神经内科,福州,350001 3. 福建医科大学,附属第一医院神经内科,福州,350005 4. 厦门大学,生命科学学院,厦门,361005 |
| 摘 要： | 目的 探讨阿尔茨海默病（AD）早老素-1（PS-1）基因第3外显子的突变特点。方法 采用聚合酶链反应及基因测序技术，对12例血管性痴呆（VD）患者、13例散发性阿尔茨海默病（SAD）患者的PS-1基因第3外显子片段进行扩增与序列分析。结果 VD患者PS-1基因第3外显子未发现突变，SAD患者中有1例PS-1基因第3外显子扩增片段发现1处缺失突变。结论 在SAD中存在PS-1基因第3外显子突变。 |
| 关 键 词： | 阿尔茨海默病 早老素-1 第3外显子 突变 |
| 文章编号： | 1672-4194（2006）04-0381-03 |
| 收稿时间： | 2006-03-09 |
| 修稿时间： | 2006-06-22 |
Analysis of Mutations of Exon 3 on PS-1 Gene in Alzheimer's Disease |
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| Zheng Cuifang,Wu Songying,Zhang Haiou,Lin Hong,Wu Yingying.Analysis of Mutations of Exon 3 on PS-1 Gene in Alzheimer''''s Disease[J].Journal of Fujian Medical University,2006,40(4):381-383. | |
| Authors: | Zheng Cuifang Wu Songying Zhang Haiou Lin Hong Wu Yingying |
| Institution: | 1. College of Life Sciences, Fujian Normal University, Fuzhou 350007, China ;2. Department of Neuromedicine, Fujian Province Second People Hospital, Fuzhou 350001, China; 3. Department of Neuromedicine, The Affiliated First Hospital, Fujian Medical University, Fuzhou 350005, China ;4. School of Life Sciences, Xiamen University, Xiamen 361005, China |
| Abstract: | Objective To detect the mutations of presenilin-1(PS-1) gene of thirteen Chinese patients with sporadic Alzheimer's disease(SAD).Methods Genomic DNA were isolated from the peripheral blood of the patients with SAD or VD by an initial diagnosis.The exon3 of their PS-1 gene was analysed by using polymerase chain reaction(PCR) and sequencing technique.Results One absence mutation was found on exon3 of PS-1 in one patient,and in which one base(C) was absent.Conclusion It suggests that mutations in exon3 of PS-1 gene exist in patients with SAD. |
| Keywords: | Alzheimer disease presenilin-1 exon3 mutation |
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