早老素1基因多态性与Alzheimer病的相关研究  

Presinilin 1 Gene Polymorphism and Alzheimer's Disease in Chinese

作　　者：汤国梅[1,2] 张明园[1,2] 江三多[1,2] 吴晓东[1,2] 金通观[1,2] 顾牛范[1,2] 林嗣萃[1,2] 钱伊萍[1,2] 汪栋祥[1,2] 王红霞 

机构地区：[1]上海精神卫生中心 [2]湖北省沙市精神病院

出　　处：《中华医学遗传学杂志》1999年第1期1-4,共4页Chinese Journal of Medical Genetics

基　　金：上海市卫生局(97418)资助

摘　　要：目的探讨中国人群中早老素１（ＰＳ１）基因多态性与Ａｌｚｈｅｉｍｅｒ病（ＡＤ）的相关情况。方法应用聚合酶链式反应（ＰＣＲ）和限制性片段长度多态性（ＲＦＬＰ）方法，观察了５８例早发性ＡＤ患者、６５例迟发ＡＤ患者、１５７名正常人中的ＰＳ１多态性分布，并对ＡＤ与ＰＳ１基因的各等位基因和基因型进行关联分析。结果（１）早发ＡＤ患者中，ＰＳ１基因２／２型频率显著降低（Ｐ＜０．０５）；等位基因１频率显著升高，等位基因２频率显著降低（Ｐ＜０．０５）。迟发ＡＤ患者与正常对照之间不存在ＰＳ１等位基因和基因型分布的差异。（２）早发ＡＤ与ＰＳ１等位基因１正关联（ＲＲ＝２．２９，Ｐ＜０．０５），与等位基因２（ＲＲ＝０．４４）和２／２基因型负关联（ＲＲ＝０．２３，Ｐ＜０．０５）；迟发ＡＤ与ＰＳ１各等位基因及等位基因型之间无明显关联。（３）ＡｐｏＥε４型、早发性及女性ＡＤ患者与ＰＳ１基因的相关性尤为显著。结论中国人群中ＰＳ１基因多态性可能仅与早发ＡＤ之间具有关联，而与迟发ＡＤ无关；这种关联具有年龄。Objective To detect the relationship between Presinilin 1(PS1) intronic polymorphism and Alzheimer's disease(AD) in Chinese.Methods PS1 intronic polymorphism was genotyped in 58 early onset AD cases (EOAD), 65 late onset AD cases (LOAD) and 157 age matched controls by using PCR methods and RFLP typing. Then the association between PS1 polymorphism and AD was analyzed.Results (1) In EOAD cases, the frequency of allele 1 increased and the frequencies of allele 2 and genotype 2/2 decreased markedly, but in LOAD cases, no differences were observed. (2) EOAD was significantly associated with allele 1(RR=2.29, P <0.05),allele 2(RR=0.44) and genotype 2/2 (RR=0.23, P <0.05) of PS1 polymorphism, while LOAD showed no association with PS1 polymorphism. (3) PS1 polymorphism was associated with AD predominantly in non ApoE ε4, female, early onset cases.Conclusion PS1 polymorphism was only associated with EOAD in Chinese, and this may be influenced by age of onset and sex.

关 键 词：早老素1基因 早老性痴呆 基因多态性 相关研究 

分 类 号：R749.16[医药卫生—神经病学与精神病学]