title: Amyloid precursor protein mutation at codon 713 (Ala-->Val) does not cause schizophrenia: non-pathogenic variant found at codon 705 (silent).
abstract: In some families with early-onset Alzheimer's disease (AD) pathogenic mutations have been found in exons 16 and 17 of the amyloid precursor protein (APP) gene. One case of schizophrenia has been described with a mutation at codon 713. We have developed a single strand conformation polymorphism (SSCP) method that detects mutations in these exons and investigated 98 AD cases and 56 elderly healthy controls. An earlier reported mutation at codon 713 in a healthy control and a previously undescribed polymorphism at codon 705 in a sporadic case of AD were found. These mutations are probably not related to disease pathogenesis.
authors.affiliation: Karolinska Institute, Department of Clinical Neuroscience, Huddinge University Hospital, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Forsell
authors.forename: L
authors.initials: L
authors.lastname: Lannfelt
mesh_terms: D000368:Aged; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000502:physiology*; D005091:Exons / Q000502:physiology; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D016564:Amyloid beta-Protein Precursor; D003062:Codon