散发性阿尔茨海默病早老素-1基因第5号和第8号外显子突变研究

Mutations in exon 5 and exon 8 of presenilin-1 gene in sporadic (Alzheimer's) disease.

目的 探讨散发性阿尔茨海默病 (SAD)与早老素 1(PS 1)基因突变的关系。方法 采用多聚酶链反应 单链构象多态性 (PCR SSCP)分析技术对 6 8例SAD患者的PS 1基因第 5号和第 8号外显子进行突变检测。结果 所有病例PS 1基因第 5号和第 8号外显子的PCR SSCP分析结果均显示两条单链和一条双链 ,未发现异常泳动 ,推断没有存在突变。结论 SAD和家族性AD(FAD)的致病原因存在差异 ,在SAD中PS 1基因第 5号和第 8号外显子不存在突变或突变率极低 。

Objective To investigate the association between sporadic Alzheimer's disease (SAD) and mutations of presenilin-1 (PS-1) gene. Methods Mutations in exon 5 and exon 8 of PS-1 gene among 68 patients with SAD were screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis. Results The PCR-SSCP patterns of exon 5 and exon 8 of PS-1 gene among all subjects showed two single strands respectively. No mobility shifts were found. These suggested that there were no mutations in these regions. Conclusions Mutations in exon 5 and exon 8 of PS-1 gene do not or rarely exist in SAD. They are not causative factors in SAD.