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.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2004年第5期402-404,共3页
Chinese Journal of Neurology
