β-amyloid gene dosage in Alzheimer's disease

• Published in: Nucleic acids research Vol. 16; no. 1; p. 357
• Main Authors: MURDOCH, G. H, MANUELIDIS, L, KIM, J. H, MANUELIDIS, E. E
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 11-01-1988
• Subjects: Alzheimer Disease - genetics; Amyloid - genetics; Amyloid beta-Peptides; Biological and medical sciences; Female; Fundamental and applied biological sciences. Psychology; Genes; Genes. Genome; Humans; Male; Molecular and cellular biology; Molecular genetics; Reference Values; Human; Gene dosage; Amyloid; Peptides; Alzheimer disease
• ISSN: 0305-1048; 1362-4962
• DOI: 10.1093/nar/16.1.357

The 4-5 kd amyloid beta -peptide is a major constituent of the characteristic amyloid plaque of Alzheimer's disease. It has been reported that some cases of sporatic Alzheimer's disease are associated with at least a partial duplication of chromosome 21 containing the gene corresponding to the 695 residue precursor of this peptide. To contribute to an understanding of the frequency to such a duplication event in the overall Alzheimer's population, the authors have determined the gene dosage of the beta -amyloid gene in collection of cases. All cases had a clinical diagnosis of Alzheimer's confirmed neuropathologically. Each Alzheimer's case had an apparent normal diploid beta -amyloid gene dosage, while control Down's cases had the expected triploid dosage. Thus partial duplication of chromosome 21 may be a rare finding in Alzheimer's disease.