title: Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds.
abstract: We sequenced the entire coding region of the amyloid precursor protein (APP) genes of 11 unrelated patients with Japanese familial Alzheimer's disease (FAD) in order to determine the exact frequency of known APP gene mutations and to search for novel mutations responsible for FAD. Three out of 11 (27.3%) FAD patients showed the known Val to Ile mis-sense mutation at codon 717, but no other mutations were detected in the entire coding region. Analysis of exons 16 and 17 in 30 Japanese with sporadic AD revealed no mutations. Moreover, there were no significant differences in the allele frequencies of the DNA polymorphism in intron 9 among the 11 FAD, 39 sporadic AD, and 110 control subjects.
authors.affiliation: Department of Neurology, Tokyo Medical University, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Fujigasaki
authors.forename: S
authors.initials: S
authors.lastname: Naruse
authors.forename: K
authors.initials: K
authors.lastname: Kaneko
authors.forename: H
authors.initials: H
authors.lastname: Hirasawa
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: T
authors.initials: T
authors.lastname: Miyatake
mesh_terms: D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D006801:Humans; D007564:Japan; D008875:Middle Aged; D008969:Molecular Sequence Data
chemical_list: D016564:Amyloid beta-Protein Precursor; D017931:DNA Primers