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Gene Dosage of the Amyloid β Precursor Protein in Alzheimer's Disease

The progressive deposition in the human brain of amyloid filaments composed of the amyloid β protein is a principal feature of Alzheimer's disease (AD). Densitometric analysis of Southern blots probed with a complementary DNA for the amyloid protein has been carried out to determine the relativ...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1987-10, Vol.238 (4827), p.669-671
Main Authors: Podlisny, Marcia Berman, Lee, Gloria, Selkoe, Dennis J.
Format: Article
Language:English
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Summary:The progressive deposition in the human brain of amyloid filaments composed of the amyloid β protein is a principal feature of Alzheimer's disease (AD). Densitometric analysis of Southern blots probed with a complementary DNA for the amyloid protein has been carried out to determine the relative dosage of this gene in genomic DNA of 14 patients with AD, 12 aged normal subjects, and 10 patients with trisomy 21 (Down syndrome). Whereas patients in the last group showed the expected 1.5-fold increase in dosage of this gene, none of the patients with AD had a gene dosage higher than that of the normal controls. These results do not support the hypothesis that the genetic defect in AD involves duplication of a segment of chromosome 21 containing the amyloid gene. Alternative mechanisms for the brain-specific increase in amyloid protein deposition in AD should be considered.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.2960019