痴呆患者早老素-1基因第6号外显子突变研究  

New mutation of exon 6 of presenilin-1 in dementia sufferer

作　　者：刘兴彦 尹利德 段勇[2] 刘华[2] 程宝文[3] 王燕 

机构地区：[1]云南玉溪市第二人民医院检验科生物技术室,653100 [2]昆明医学院附属第一医院临床实验研究中心 [3]云南大学生物技术系 [4]云南省精神病院老年科

出　　处：《中华神经科杂志》2004年第5期402-404,共3页Chinese Journal of Neurology

摘　　要：目的　探讨痴呆患者早老素 1基因第 6号外显子的突变特点。方法　应用聚合酶链反应 单链构象多态性 (PCR SSCP)和DNA测序技术检测 5 3例SAD患者、6 0例VD患者及 90名健康老年人早老素 1基因第 6号外显子。结果　DNA测序在SSCP泳动异常标本中发现 112 3位点和130 0位点发生错义突变 ,其中 ,SAD组 2例在 112 3位点发生突变、2例在 130 0位点突变 ,VD组 1例在 112 3位点发生突变 ;112 3位点发生C→G突变 (Cys 2 3Trp) ,130 0位点发生A→C突变 (Asp 2 0 0Ala)。结论　SAD患者存在早老素 1基因第 6号外显子突变 ,本实验结果显示的 2个突变位点均处在早老素蛋白的重要功能区 。Objective To explore the role of the mutation of presenilin-1 exon 6 in pathogenesis of dementia sufferer. Methods Exon 6 of presenilin-1 was analyesd by using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA analyzer technique in 53 patients with Alzheimer's disesase, 60 patients with vascular dementia and 90 normal controls. Results Mobility shifts of SSCP in exon 6 of presenilin-1 were detected in 4 patients with Alzheimer's disease and 1 patient with vascular dementa. Two missense mutations were found in patients by using DNA sequence analyse, in which one mutation was 1123 nt C→G(Cys 23 Trp) and the other was 1300 nt A→C(Asp 200 Ala). Conclusion It suggests that mutations in exon 6 of presenilin-1 might exist in patients with sporadic Alzhemer's disease, and the two missense mutations should be pathologic mutations.

关 键 词：患者 早老素-1基因 突变研究 外显子 痴呆 VD 错义突变 位点 DNA测序技术 SSCP 

分 类 号：R749.1[医药卫生—神经病学与精神病学]