Mutational screening of APP gene in patients with early-onset Alzheimer disease utilizing mismatched PCR-RFLP

• Published in: Clinical genetics Vol. 49; no. 3; p. 119
• Main Authors: Nishiwaki, Y, Kamino, K, Yoshiiwa, A, Nagano, K, Takeda, M, Tanabe, H, Nishimura, T, Kobayashi, T, Yamamoto, H, Nonomura, Y, Yoneda, H, Sakai, T, Imagawa, M, Miki, T, Ogihara, T
• Format: Journal Article
• Language: English
• Published: Denmark 01-03-1996
• Subjects: Adult; Alzheimer Disease - epidemiology; Alzheimer Disease - genetics; Amyloid beta-Protein Precursor - genetics; Base Sequence; DNA Primers; Exons; Humans; Japan; Middle Aged; Molecular Sequence Data; Mutation; Polymerase Chain Reaction - methods; Polymorphism, Restriction Fragment Length; Japan
• ISSN: 0009-9163
• DOI: 10.1111/j.1399-0004.1996.tb03269.x

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.