Ml. Peacock et al., NOVEL POLYMORPHISM IN THE A4-REGION OF THE AMYLOID PRECURSOR PROTEIN GENE IN A PATIENT WITHOUT ALZHEIMERS-DISEASE, Neurology, 43(6), 1993, pp. 1254-1256
We found a novel polymorphism in the amyloid precursor protein (APP) g
ene in a patient with ischemic cerebrovascular disease who had no evid
ence of Alzheimer's disease (AD). This polymorphism deletes a Fok I re
striction enzyme site and causes the substitution of threonine for ala
nine at codon 673. This is adjacent to the site at which APP is though
t to undergo cleavage in AD. Analysis of this polymorphism may provide
insight into the basis of APP processing.