散发性Alzheimer病早老素-1基因第8号和第10号外显子突变研究  

A study on mutations in exon 8 and exon 10 of presenilin-1 gene in sporadic Alzheimer's disease

作　　者：吴琪[1] 钱采韵[1] 韩杰[1] 蓝实 温汝良 谢育坤 方宝莹[1] 张成[1] 

机构地区：[1]中山医科大学附属第一医院神经科,510080 [2]广州市老人院 [3]广州市荔湾区颐乐园

出　　处：《脑与神经疾病杂志》2002年第2期72-74,共3页Journal of Brain and Nervous Diseases

基　　金：国家自然科学基金 (39370 2 64)资助

摘　　要：目的 :探讨散发性 Alzheimer病 (SAD)与早老素 - 1(PS- 1)基因突变的关系。方法 :采用聚酶链反应 -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 8号和第 10号外显子进行突变检测。结果 :所有病例 PS- 1基因第 8号外显子的 PCR- SSCP分析结果均两条单链和一条双链 ,第 10号外显子的 PCR- SSCP分析结果均显示三条单链和一条双链 ,未发现异常泳动 ,推断没有存在突变。结论 :SAD的致病原因与 FAD不同 ,PS- 1基因第 8号和第 10号外显子突变并非Objective: To investigate the association between sporadic Alzheimer's disease (SAD) and mutations of presenilin 1(PS 1) gene. Methods: We screened mutations in exon 8 and exon 10 of PS 1 gene among 68 patients with SAD by polymerase chain reaction single strand conformation polymophism (PCR SSCP) analysis. Results: The PCR SSCP patterns of exon 8 of PS 1 gene among all subjeicts showed two single strands, and the PCR SSCP patterns of exon 10 of PS 1 gene among all subjects showed three single strands. No mobility shifts were found. These suggested that there were no mutations in these regions. Conclusion: The causes of SAD are different from those of FAD. Mutations in exon 8 and exon 10 of PS 1 gene are not causative in SAD.

关 键 词：ALZHEIMER病 早老素-1基因 突变 多聚酶链反应-单链构象多态性 

分 类 号：R749.16[医药卫生—神经病学与精神病学]