【摘要】 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 ,并非SAD致病的重要因素更多还原

【Abstract】 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.更多还原