title: Lack of point mutation of the APP gene in sporadic Alzheimer's disease in Japanese.
abstract: We investigated point mutations of the APP gene in 66 patients with sporadic Alzheimer's disease (AD) and 180 normal individuals by use of the PCR (polymerase chain reaction) method. Both the AD patients and the normal individuals were Japanese. We extracted DNA from blood samples using the phenol-chloroform method and amplified exons 16 and 17 of the APP gene by PCR. PCR products were digested by MBO-II (exon 16) and BCL-1(exon 17). Electrophoresis was carried out with 3% agarose gel and the separated fragments were stained with ethidium bromide. In addition we investigated other point mutations of exons 16 and 17 by use of the PCR-SSCP (single stranded conformation polymorphisms) method, and found no fragments that exhibited point mutations in the AD patients and normal individuals. These findings indicate that the presence of point mutation of the APP gene is not a major cause of AD in the Japanese population.
authors: Department of Neuropsychiatry, Osaka Medical College, Japan.
authors: Y
authors: Y
authors: Nonomura
authors: H
authors: H
authors: Yoneda
authors: T
authors: T
authors: Sakai
authors: Y
authors: Y
authors: Inayama
authors: Y
authors: Y
authors: Kono
authors: J
authors: J
authors: Koh
authors: J
authors: J
authors: Sakai
authors: Y
authors: Y
authors: Inada
authors: A
authors: A
authors: Takai
authors: H
authors: H
authors: Asaba
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012016:Reference Values
chemical_list: D016564:Amyloid beta-Protein Precursor