Tanzi R E, Gusella J F, Watkins P C, Bruns G A, St George-Hyslop P, Van Keuren M L, Patterson D, Pagan S, Kurnit D M, Neve R L
Science. 1987 Feb 20;235(4791):880-4. doi: 10.1126/science.2949367.
The amyloid beta protein has been identified as an important component of both cerebrovascular amyloid and amyloid plaques of Alzheimer's disease and Down syndrome. A complementary DNA for the beta protein suggests that it derives from a larger protein expressed in a variety of tissues. Overexpression of the gene in brain tissue from fetuses with Down syndrome (trisomy 21) can be explained by dosage since the locus encoding the beta protein maps to chromosome 21. Regional localization of this gene by both physical and genetic mapping places it in the vicinity of the genetic defect causing the inherited form of Alzheimer's disease.
β-淀粉样蛋白已被确定为脑血管淀粉样蛋白以及阿尔茨海默病和唐氏综合征淀粉样斑块的重要组成部分。β-蛋白的互补DNA表明它源自一种在多种组织中表达的更大的蛋白质。由于编码β-蛋白的基因座定位于21号染色体,因此唐氏综合征(21三体)胎儿脑组织中该基因的过表达可以用基因剂量来解释。通过物理图谱和遗传图谱对该基因进行区域定位,将其置于导致遗传性阿尔茨海默病的遗传缺陷附近。