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Lack of point mutation of the APP gene in sporadic Alzheimer's disease in Japanese
Author(s) -
omura Y.,
Yoneda H.,
Sakai T.,
Inayama Y.,
Kono Y.,
Koh J.,
Sakai J.,
Inada Y.,
Takai A.,
Asaba H.
Publication year - 1996
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1996.tb00189.x
Subject(s) - exon , point mutation , microbiology and biotechnology , ethidium bromide , polymerase chain reaction , agarose gel electrophoresis , gene , single strand conformation polymorphism , biology , genetics , mutation , gene mutation , population , dna , medicine , environmental health
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‐11 (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.