RFLP analysis for APP 717 mutations associated with Alzheimer's disease

S. R. Zeldenrust, J. Murrell, M. Farlow, B. Ghetti, A. D. Roses, M. D. Benson

Research output: Contribution to journalArticle

7 Scopus citations


Familial Alzheimer's disease (FAD) has been shown to be associated with three distinct point mutations within the same codon of the amyloid precursor protein (APP) gene. The mutation identified in the Indiana kindred is a G→T transversion at the first position of the codon for amino acid 717, resulting in a substitution of phenylalanine for valine in the APP protein. Screening of persons at risk for the APP Phe-717 mutation using a variation of the polymerase chain reaction identified nine positives among 34 tested. In addition, DNA from 145 FAD subjects were tested for the three known APP 717 mutations.

Original languageEnglish (US)
Pages (from-to)476-478
Number of pages3
JournalJournal of Medical Genetics
Issue number6
StatePublished - Jan 1 1993

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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