Abstract
The majority of early-onset familial Alzheimer's disease (EOAD) has been associated with mutations in a novel gene on chromosome 14 which has been termed presenilin-1 gene. We screened for mutations within the presenilin-1 gene in twenty patients with EOAD using a PCR-SSCP analysis. We found three aberrant (mutant?) band patterns for exons 4 and 7 in three unrelated patients.
MeSH terms
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Adult
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Aged
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Alzheimer Disease / diagnosis*
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Alzheimer Disease / genetics*
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Apolipoproteins E / genetics
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Chromosomes, Human, Pair 14*
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Female
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Gene Frequency
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Genetic Testing / methods*
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Genotype
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Humans
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Male
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Membrane Proteins / analysis
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Membrane Proteins / genetics
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Middle Aged
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Mutation
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Pedigree
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Polymerase Chain Reaction
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Polymorphism, Single-Stranded Conformational
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Presenilin-1
Substances
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Apolipoproteins E
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Membrane Proteins
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PSEN1 protein, human
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Presenilin-1