Lack of point mutation of the APP gene in sporadic Alzheimer's disease in Japanese
| Autor: | Hiroshi Yoneda, Jun Koh, Yasuhiro Nonomura, Akiko Takai, Jun Sakai, Hiroyuki Asaba, Yoshihiro Kono, Yasuhiro Inayama, Toshiaki Sakai, Y. Inada |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Biology Polymerase Chain Reaction law.invention Amyloid beta-Protein Precursor chemistry.chemical_compound Exon Asian People Japan Alzheimer Disease Reference Values law Amyloid precursor protein Humans Point Mutation Gene Polymorphism Single-Stranded Conformational Polymerase chain reaction Aged Aged 80 and over Genetics Point mutation Single-strand conformation polymorphism General Medicine Middle Aged Molecular biology Neurology chemistry biology.protein Female Neurology (clinical) Ethidium bromide DNA |
| Zdroj: | Acta Neurologica Scandinavica. 93:138-141 |
| ISSN: | 1600-0404 0001-6314 |
| DOI: | 10.1111/j.1600-0404.1996.tb00189.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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