Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

Nature. 1991 Oct 31;353(6347):844-6. doi: 10.1038/353844a0.


A mutation at codon 717 of the beta-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family. This mutation has been reported in a further five out of approximately 100 families multiply affected by Alzheimer's disease. We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 in affected individuals from this family has revealed a base change producing a Val----Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / genetics*
  • Amino Acid Sequence
  • Amyloid beta-Protein Precursor / genetics*
  • Base Composition
  • Base Sequence
  • Codon / genetics
  • Exons
  • Female
  • Genes
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Oligodeoxyribonucleotides
  • Pedigree
  • Polymerase Chain Reaction


  • Amyloid beta-Protein Precursor
  • Codon
  • Oligodeoxyribonucleotides

Associated data

  • GENBANK/S60983
  • GENBANK/X57450
  • GENBANK/X57451
  • GENBANK/X57452
  • GENBANK/X57453
  • GENBANK/X57454
  • GENBANK/X57455
  • GENBANK/X57689
  • GENBANK/X62741
  • GENBANK/X62744