摘要
目的 对中国汉族人群中早老素 1(presenilin 1,PS1)基因 8号内含子多态性与晚发阿尔茨海默病 (AD)进行关联分析 ,探讨PS1与载脂蛋白E(ApoE)基因多态性有无相互作用。方法 应用聚合酶链式反应和限制性片段长度多态性方法 ,检测了 10 3例晚发AD患者和 98例正常老年人中PS1与ApoE基因多态性 ,并对AD与PS1和ApoE各等位基因及基因型进行了关联分析。结果 ①在晚发AD患者中 ,PS1等位基因 1和 1/1基因型频率显著升高 (Z =2 0 9,2 80 ,P <0 0 5 ) ,而等位基因 2的频率显著降低 (Z =2 0 9,P <0 0 5 )。②晚发AD患者与PS1等位基因 1呈正相关 (RR =1.5 8,χ2 =5 .11,P <0 0 5 ) ,与PS1等位基因2呈负相关 (RR =0 .63 ,χ2 =5 .11,P <0 0 5 ) ;晚发AD患者与PS 1/1基因型呈正相关 (RR =2 .43 ,χ2 =7 5 7,P <0 0 1) ,与 1/2及2 /2基因型无明显关联。③晚发AD与ApoEε3 /ε4基因型和等位基因ε4呈正相关 (RR =2 .95 ,χ2 =8 18;RR =3 .13 ,χ2 =13 .0 ,P均小于 0 0 1)。结论 中国南方汉族人群中PS1和ApoE基因多态性与晚发AD之间有密切相关性。
Objective To study the genetic association among intron 8 polymorphism in presenilin 1 gene, ApoE gene and late onset Alzheimers disease (LOAD) in Han Chinese. Methods 103 Han Chnese with late onset Alzheimers disease [41 men and 62 women, mean age (83.0±12.6) years] and 98 age matched controls [50 men and 48 women, mean age (80.6±9.5) years] were recruited from Guangzhou City. Polymorphism within the intron 8 of the presenilin 1 gene and ApoE gene was analyzed by using PCR and RFLP. Results (1) In LOAD, the frequency of allele 1 and genotype 1/1 increased significantly ( Z =2.40,2.60, P <0.05). (2) LOAD was significantly associated with allele 1( RR=1.58, χ 2=5.11, P <0 05) and genotype 1/1 ( RR=2.43, χ 2=7.57,P<0 01 ) of PS1 intron 8 polymorphism. (3) LOAD was significantly associated with ApoE ε4 ( RR=2.95, χ 2=8.18, P< 0 01) and ApoE ε3/ε4 ( RR=3.13, χ 2=13.0, P<0.01 ). Conclusions There was a genetic association among intronic 8 polymorphism in PS1 gene, ApoE gene and LOAD in Han Chinese.
出处
《中国神经精神疾病杂志》
CSCD
北大核心
2000年第6期345-347,共3页
Chinese Journal of Nervous and Mental Diseases
基金
广东省医学科学技术研究基金资助项目(批准编号:A1998536)
