RFLP analysis for APP 717 mutations associated with Alzheimer's disease.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 7686976.
- Also identified by PMC identifier 1016419.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- Point Mutation