阿尔茨海默病中淀粉样前体蛋白基因第717密码子突变的筛查。

Screening for mutations at codon 717 of the amyloid precursor protein gene in Alzheimer's disease.

作者信息

Dai X Y, Hattori M, Hirasawa H, Isse K, Ueki A, Nanko S

机构信息

Department of Psychiatry, Teikyo University School of Medicine, Itabashi-ku, Japan.

出版信息

Psychiatry Clin Neurosci. 1995 Jun;49(3):175-8. doi: 10.1111/j.1440-1819.1995.tb02224.x.

DOI:10.1111/j.1440-1819.1995.tb02224.x

PMID:8612192

Abstract

Three kinds of missense mutation at codon 717 of amyloid precursor protein (APP) gene (Val --> Ile; Val --> Gly; Val --> Phe) were screened in 114 patients with familial and sporadic Alzheimer's disease (AD), using a rapid testing method for each Val --> Gly and Val --> Phe mutation and Goate's method for Val --> Ile mutation based on the polymerase chain reaction. Mutations were not found in the subjects, confirming earlier suggestions that these three mutations at codon 717 of APP gene account for only a small proportion of cases of not only familial AD but also sporadic AD.

摘要

采用针对缬氨酸（Val）突变为甘氨酸（Gly）和缬氨酸突变为苯丙氨酸（Phe）突变的快速检测方法以及基于聚合酶链反应的用于缬氨酸突变为异亮氨酸（Ile）突变的Goate方法，在114例家族性和散发性阿尔茨海默病（AD）患者中筛查淀粉样前体蛋白（APP）基因第717密码子的三种错义突变（Val→Ile；Val→Gly；Val→Phe）。在这些受试者中未发现突变，这证实了早期的推测，即APP基因第717密码子的这三种突变不仅在家族性AD中，而且在散发性AD中仅占一小部分病例。