Xy. Dai et al., SCREENING FOR MUTATIONS AT CODON-717 OF THE AMYLOID PRECURSOR PROTEINGENE IN ALZHEIMERS-DISEASE, PSYCHIATRY AND CLINICAL NEUROSCIENCES, 49(3), 1995, pp. 175-178
Three kinds of missense mutation at codon 717 of amyloid precursor pro
tein (APP) gene (Val-->Ile; Val-->Gly; Val-->Phe) were screened in 114
patients with familial and sporadic Alzheimer's disease (AD), using a
rapid testing method for each Val-->Gly and Val-->Phe mutation and Go
ate's method for Val-->Ile mutation based on the polymerase chain reac
tion. Mutations were not found in the subjects, confirming earlier sug
gestions that these three mutations at codon 717 of APP gene account f
or only a small proportion of cases of not only familial AD but also s
poradic AD.