Golimbet V E, Ovchinnikov I V, Voskresenskaia N I, Iurov Iu B, Rogaev E I, Doronina O A, Maksunova I V
Zh Nevrol Psikhiatr Im S S Korsakova. 1996;96(1):75-8.
Missence mutation in codon 717 of the amyloid precursor protein (APP) gene that codes for the precursor to the beta-protein found in the amyloid deposits of Alzheimer disease was recently shown to be segregated with this disease in some kindreds. The following study aimed to determine the frequency of the codon 717 mutation in familial and "sporadic" cases of dementia of the Alzheimer type has been performed in Russian patients. 62 patients with senile dementia and the Alzheimer disease with early and late onset and 43 normal controls were tested for this mutation. None of them were positive. Thus this mutation is considered to be rare in studied population though in some cases it may be the cause of the disease.
淀粉样前体蛋白(APP)基因第717密码子的错义突变编码β蛋白的前体,该β蛋白存在于阿尔茨海默病的淀粉样沉积物中,最近研究表明,在一些家族中,这种突变与该疾病相关。以下研究旨在确定俄罗斯患者中阿尔茨海默型痴呆的家族性和“散发性”病例中第717密码子突变的频率。对62例早发和晚发的老年性痴呆和阿尔茨海默病患者以及43名正常对照进行了该突变检测。结果均为阴性。因此,尽管在某些情况下该突变可能是疾病的病因,但在研究人群中该突变被认为是罕见的。