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目的探讨早老素-1基因突变在散发性阿尔茨海默病(SPORADICALZHEIMER′SDISEASE,SAD)患者发病机制中的作用.方法应用聚合酶链反应-单链构像多态性(PCR-SSCP)及DNA直接测序技术检测68名SAD患者、13名血管性痴呆(VD)患者和65名正常老年人的早老素-1基因第5号外显子.结果发现4名SAD患者的PCR产物SSCP分析发生泳动异常,DNA序列分析发现:这4名SAD患者的130号密码子发生了CTG→ATG错义突变(388位点发生C→A突变),使编码的氨基酸由亮氨酸变为蛋氨酸(LEU130MET);157号密码子发生了GTG→CTG错义突变(469位点发生G→C突变),使编码的氨基酸由缬氨酸变为亮氨酸(VAL157LEU),另有11名患者SSCP表现为一条单链增快,其性质待定.结论SAD患者也存在早老素-1基因第5号外显子突变,该突变点可能为中国人SAD患者早老素基因突变点之一.“,”Objective To explore the role of the mutation of presenilin-1 in pathogenesis of sporadic Alzhemier’’s disease. Methods Exon 5 of presenilin-1 was analysed by using polymerase chain reaction-single strand conformation polymorphism (PCR SSCP) and ABI 310 genetic analyzer technique in 68 patients with Alzheimer’’s disease, 13 patients with vascular dementia and 65 normal controls. Results Mobiligy shifts of SSCP in exon 5 of presenilin-1 was detected in 4...