title: Mutational screening of APP gene in patients with early-onset Alzheimer disease utilizing mismatched PCR-RFLP.
abstract: To elucidate the frequency of mutations of the beta/A4 amyloid protein precursor (APP) gene in early-onset Alzheimer disease, we designed a mismatched PCR-RFLP that can identify all kinds of missense mutations at codon 717 in addition to the seven kinds of known mutations at exon 17. When we screened mutations at exon 17 utilizing this method and the double missense mutations at exon 16 of the APP gene by PCR-RFLP, no cases revealed mutations of the APP gene among 13 familial and 54 sporadic cases, except one family (OS-1) that had previously been reported and used as a positive control of APP717(Val-->Ile). Our results support the hypothesis that mutations in the APP gene are not major causes in early-onset Alzheimer disease.
authors: Department of Geriatric Medicine, Osaka University Medical School, Japan.
authors: Y
authors: Y
authors: Nishiwaki
authors: K
authors: K
authors: Kamino
authors: A
authors: A
authors: Yoshiiwa
authors: K
authors: K
authors: Nagano
authors: M
authors: M
authors: Takeda
authors: H
authors: H
authors: Tanabe
authors: T
authors: T
authors: Nishimura
authors: T
authors: T
authors: Kobayashi
authors: H
authors: H
authors: Yamamoto
authors: Y
authors: Y
authors: Nonomura
authors: H
authors: H
authors: Yoneda
authors: T
authors: T
authors: Sakai
authors: M
authors: M
authors: Imagawa
authors: T
authors: T
authors: Miki
authors: T
authors: T
authors: Ogihara
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001483:Base Sequence; D017931:DNA Primers; D005091:Exons; D006801:Humans; D007564:Japan; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D016564:Amyloid beta-Protein Precursor; D017931:DNA Primers