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


Journal Article

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.

Full Text

Cited Authors

  • Zeldenrust, SR; Murrell, J; Farlow, M; Ghetti, B; Roses, AD; Benson, MD

Published Date

  • June 1, 1993

Published In

Volume / Issue

  • 30 / 6

Start / End Page

  • 476 - 478

PubMed ID

  • 7686976

Pubmed Central ID

  • 7686976

Electronic International Standard Serial Number (EISSN)

  • 1468-6244

International Standard Serial Number (ISSN)

  • 0022-2593

Digital Object Identifier (DOI)

  • 10.1136/jmg.30.6.476


  • eng