Amyloid precursor protein mutation at codon 713 (Ala-->Val) does not cause schizophrenia: non-pathogenic variant found at codon 705 (silent).

Abstract excerpt

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...

Topics

• Aged
• Amyloid beta-Protein Precursor
• Base Sequence
• Codon
• Exons
• Humans
• Molecular Sequence Data
• Mutation
• Phenotype
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational