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

Steven R. Zeldenrust, Jill Murrell, Martin Farlow, Bernardino Ghetti, Allen D. Roses, Merrill Benson

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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
Pages (from-to)476-478
Number of pages3
JournalJournal of Medical Genetics
Volume30
Issue number6
StatePublished - 1993

Fingerprint

Amyloid beta-Protein Precursor
Restriction Fragment Length Polymorphisms
Alzheimer Disease
Mutation
Codon
Valine
Phenylalanine
Point Mutation
Amino Acids
Polymerase Chain Reaction
DNA
Genes
Proteins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

RFLP analysis for APP 717 mutations associated with Alzheimer's disease. / Zeldenrust, Steven R.; Murrell, Jill; Farlow, Martin; Ghetti, Bernardino; Roses, Allen D.; Benson, Merrill.

In: Journal of Medical Genetics, Vol. 30, No. 6, 1993, p. 476-478.

Research output: Contribution to journalArticle

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