Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease
Department of Neurology
Alleles; Alzheimer Disease; Amyloid; *Chromosomes, Human, Pair 21; Genes; Humans; Linkage (Genetics); Polymorphism, Restriction Fragment Length
Neurology | Neuroscience and Neurobiology
The possibility that Alzheimer's disease (AD) is caused by overexpression or duplication of one or more genes on chromosome 21 has been raised by the observation of AD-like neuropathologic changes in individuals with Down syndrome and by the mapping of both the defect for familial AD and the amyloid beta protein gene to this autosome. Possible duplication on chromosome 21 was investigated in both familial and sporadic AD by means of restriction fragment length polymorphisms for the amyloid and SODI loci, as well as for DNA markers in the vicinity of the familial AD defect and in the critical Down syndrome region of chromosome 21. No evidence of increased DNA dosage was observed in either brain or leukocytes of patients with inherited or sporadic forms of AD. Duplication of these regions is therefore not a frequent event in either form of AD. Furthermore, no significant allelic association was detected between AD and any of the loci, including the amyloid and SODI genes, providing no support for the hypothesis that defects in these specific genes are the primary cause of AD.
Science. 1987 Oct 30;238(4827):664-6.
Science (New York, N.Y.)
St.George-Hyslop PH, Tanzi RE, Polinsky RJ, Neve RL, Pollen DA, Drachman DA, Growdon J, Cupples LA, Nee L, Myers RH. (1987). Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease. Neurology Publications. Retrieved from https://escholarship.umassmed.edu/neuro_pp/217