早老素-1基因内含子多态性与散发性阿尔茨海默病的相关性研究  

Correlation between intronic polymorphism of presenilin-1 gene and sporadic Alzheimer disease

作　　者：张颖冬[1] 沈伟[1] 柯晓燕[1] 刘阳[1] 李海林[1] 

机构地区：[1]南京医科大学附属脑科医院神经精神病学研究所,江苏省南京市210029

出　　处：《中国临床康复》2004年第31期6876-6878,共3页Chinese Journal of Clinical Rehabilitation

基　　金：江苏省科技厅自然科学基金资助项目(BK99159)~~

摘　　要：目的:对早老素-1基因第8内含子多态性与散发性阿尔茨海默病(sporadicAlzheimerdisease,SAD)进行关联分析,为分子生物学提供理论依据。方法:以多种临床量表筛选及根据ADRDA-NINCDS临床诊断标准,收集144例临床疑诊的SAD患者(男72例,女72例,其中早发性患者40例和晚发性患者104例)及140例健康老人作为研究对象,以PCR-RELP方法检测其早老素-1基因第8内含子多态性,进行对比分析。结果:与对照组的基因型及等位基因频率比较,早发性SAD组PS-1基因第8内含子基因型、等位基因频率分布相似,而晚发性SAD组1等位基因频率(63.94%)明显增高,2/2基因型(8.65%)、2等位基因频率(36.06%)明显降低。结论:PS-1基因内含子的多态性与国人晚发性SAD发病相关联,可能是晚发性SAD的遗传性易感因素。AIM:To analyze the association between the VIII intronic polymorphism of presenilin-1(PS-1) gene and sporadic Alzheimer disease(SAD),so as to provide theoretical evidence for molecular biology. METHODS:Screened with several clinical scales and diagnosed by ADRDA-NINCDS criteria,114 patients with probable SAD(including 72 males and 72 females, of whom,40 cases of early-onset and 104 cases of late-onset) and 140 healthy elderly controls were recruited in the study.The VIII intronic polymorphism of PS-1 gene of the subjects was determined by using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) technique. RESULTS:There was no the significant difference in the genotype and allele frequency of VIII intron of PS-1 gene between the early-onset SAD group and control group.However,the frequency of 1 allele of PS-1 gene(63.94%) was increased significantly,while the frequencies of 2/2 genotype(8.65%) and 2 allele(36.06%) were decreased markedly in the late-onset SAD group as compared with those in the control group. CONCLUSION:The intronic polymorphism of PS-1 gene correlates with the late-onset SAD,and may be one of the genetic susceptive factors for late-onset SAD.

关 键 词：晚发性 早老素-1基因 散发性阿尔茨海默病 多态性 PS-1基因 患者 相关性研究 内含子 等位基因频率 分子生物学 

分 类 号：R749.16[医药卫生—神经病学与精神病学] R742.5[医药卫生—临床医学]