老年性痴呆与早老素1基因多态性的关联分析

Association analysis of presenilin 1 polymorphism with Alzheimer's disease.

目的论证老年性痴呆（ＡＤ）与早老素１（ＰＳ１）基因多态性之间的关系。方法应用聚合酶链式反应－限制性片段长度多态性（ＰＣＲ－ＲＦＬＰ）方法，对７１例ＡＤ患者（６０～９４岁）、６９例健康老年人（６０～９１岁）及４８例老年多发梗塞性痴呆患者（ＭＩＤ，６０～９４岁）的ＰＳ１基因分型，计算基因频率分布，并对ＡＤ、ＭＩＤ与ＰＳ１基因的各等位基因进行关联分析。结果ＡＤ、健康老年人及ＭＩＤ患者中，ＰＳ１的等位基因１的频率分别为０．６３、０．６５和０．５６，等位基因２的频率分别为０．３７、０．３５和０．４４。关联分析表明ＡＤ、ＭＩＤ与ＰＳ１各等位基因及基因型之间无明显关联。

Objective To study the association of presenilin 1 (PS1) genotype 1/1 with late onset Alzheimer's disease (AD) in Chinese. Methods Seventy one AD cases, 69 age matched normal controls, and 48 multi infarct dementia (MID) patients as disease controls were studied. Genotyping of PS1 and apolipoprotein E (apoE) were performed by the method of polymerase chain reaction and restriction fragment length polymorphism. Results In AD, normal control, and MID, PS1 allele 1 frequency was 0 63,0 65 and 0 56, respectively; PS1 allele2 frequency was 0 37, 0 35 and 0 44, respectively. No association was detected between these diseases and any PS1 allele or genotype. Conclusions The failure to detect association between AD and PS1 polymorphism suggested that this association might be population depended.