早衰蛋白-1基因内含子多态性与Alzheimer’s病的关系

Relationship betWeen nitronic polymorphism in presenilin- 1 gene and Alzheimer's disease

为探讨早衰蛋白－１（ＰＳ－１）基因多态性与Ａｌｚｈｅｉｍｅｒ’ｓ病（ＡＤ）的关系，用聚合酶链反应一限制性片段长度多态性（ＰＣＲ－ＲＦＬＰ）方法检测５１例散发性ＡＤ患者ＰＳ－１外显子８的３’端内含子基因型，其中４０例晚发性ＡＤ患者，同时检测８７例健康对照者ＰＳ－１基因型。结果发现散发性ＡＤ组１／１基因型和１等位基因频率分别为０．５１０和０．６９６，显著高于对照组的０．２９９和０．５２２（Ｐ＜０．０５）；晚发性ＡＤ组１／１基因型和１等位基因频率分别为０．５５０和０．７２５，极显著高于对照组（Ｐ＜０．０１）。与年龄、性别匹配对照组比较，ＰＳ－１１／１基因型和１等位基因可增加散发性与晚发性ＡＤ发病风险。

To investigate whether presenilin-1 (PS- 1 ) gene, a major causative gene of early-onset familial Alzheimer's disease (AD), contributes to the etiology of sporadic or late-onset AD. The polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to studied the PS-1 genotypes. The gene frequencies of the three PS-1 genotypes detected were as following: sporadic AD (n=sl) 1/1=0.510, 1/2=0.373, 2/2=0. 1 18; lateonset AD (n=40) 1/1=0.550, 1/2=0.350, 2/2=0. 100; controls (n=87) 1/1=0.299, 1/2=0.506, 2/2=0.195. Genotype 1/1 and allele 1 in PS-1 were seen significantly more common in sporadic AD and late-onset AD than in controls (P<0.05). In this independent dataset, PS-1 1/1 genotyps and allele 1 were associated with sporadic and late-onset AD.