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.
Publication types
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Alzheimer Disease / genetics*
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Amyloid beta-Protein Precursor / chemistry
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Amyloid beta-Protein Precursor / genetics*
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Base Sequence
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DNA Mutational Analysis
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Deoxyribonuclease HpaII
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Deoxyribonucleases, Type II Site-Specific
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Electrophoresis, Agar Gel
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Humans
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Molecular Sequence Data
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Phenylalanine / genetics
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Point Mutation*
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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Valine / genetics
Substances
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Amyloid beta-Protein Precursor
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Phenylalanine
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Deoxyribonuclease HpaII
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Deoxyribonucleases, Type II Site-Specific
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Valine