Furuya H, Sasaki H, Goto I, Wong C W, Glenner G G, Sakaki Y
Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan.
Biochem Biophys Res Commun. 1988 Jan 15;150(1):75-81. doi: 10.1016/0006-291x(88)90488-3.
The amyloid beta-protein(BP) is an important component of amyloid fibrils of both Alzheimer's disease(AD) and adult Down syndrome(DS). It has been hypothesized that sporadic AD may involve the duplication of a subregion of chromosome 21 containing the BP locus. However, an improved method for detection of the BP gene duplication using polymorphic Hind III fragments led us to a conclusion that BP gene duplication is rare, if any, in (Japanese) sporadic AD patients, indicating that the duplication of the BP gene itself is not the common underlying genetic defect in AD.
β-淀粉样蛋白（BP）是阿尔茨海默病（AD）和成年唐氏综合征（DS）淀粉样纤维的重要组成部分。据推测，散发性AD可能涉及21号染色体上包含BP基因座的一个亚区域的重复。然而，一种使用多态性Hind III片段检测BP基因重复的改进方法使我们得出结论，在（日本）散发性AD患者中，BP基因重复即使存在也很罕见，这表明BP基因本身的重复不是AD常见的潜在遗传缺陷。
