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Science 13 March 1987:
Vol. 235. no. 4794, pp. 1390 - 1392
DOI: 10.1126/science.2950593

Articles

Science, Vol 235, Issue 4794, 1390-1392
Copyright © 1987 by American Association for the Advancement of Science


articles

Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome

JM Delabar, D Goldgaber, Y Lamour, A Nicole, JL Huret, J de Grouchy, P Brown, DC Gajdusek, and PM Sinet

With the recently cloned complementary DNA probe, lambda Am4 for the chromosome 21 gene encoding brain amyloid polypeptide (beta amyloid protein) of Alzheimer's disease, leukocyte DNA from three patients with sporadic Alzheimer's disease and two patients with karyotypically normal Down syndrome was found to contain three copies of this gene. Because a small region of chromosome 21 containing the ets-2 gene is duplicated in patients with Alzheimer's disease, as well as in karyotypically normal Down syndrome, duplication of a subsection of the critical segment of chromosome 21 that is duplicated in Down syndrome may be the genetic defect in Alzheimer's disease.


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