NR AKMQ
AU Schellenberg,G.D.; Anderson,L.; O'dahl,S.; Wisjman,E.M.; Sadovnick,A.D.; Ball,M.J.; Larson,E.B.; Kukull,W.A.; Martin,G.M.; Roses,A.D.; et al.
TI APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease
QU American Journal of Human Genetics 1991 Sep; 49(3): 511-7
KI Am J Hum Genet. 1991 Sep;49(3):507-10. PMID: 1831958
PT journal article
AB The amyloid precursor protein (APP) gene codes for the precursor to the beta-protein found in the amyloid deposits of Alzheimer disease (AD). Recently Goate et al. identified in codon 717 of this gene a missense mutation which segregates with AD in a familial AD (FAD) kindred. The same mutation was also found in affected subjects from a second FAD family but not in other FAD families or in normal controls. The following work was undertaken to determine the frequency of the codon 717 mutation in FAD and nonfamilial AD cases and in normal controls. We tested 76 FAD families, 127 "sporadic" AD subjects, 16 Down syndrome cases, and 256 normal controls for this mutation, and none were positive. We also tested for the APP codon 693 mutation associated with hereditary cerebral hemorrhage with amyloidosis-Dutch type, for PRIP gene missense mutations at codons 102, 117, and 200, and for the PRIP insertion mutations which are associated with Creutzfeldt-Jakob disease and Gerstmann-Sträussler Scheinker syndrome. No examples of these mutations were found in our population. Thus these APP and PRIP mutations are rare in both FAD and nonfamilial AD.
MH Adult; Aged; Aged, 80 and over; Alzheimer Disease/*genetics; Amyloid beta-Protein/*genetics; Amyloid beta-Protein Precursor; Amyloidosis/genetics; Base Sequence; Chromosomes, Human, Pair 21; Down Syndrome/genetics; Europe/epidemiology; Female; Human; Lod Score; Male; Middle Age; Molecular Sequence Data; Mutation/*genetics; PrPc Proteins; Protein Precursors/*genetics; Support, Non-U.S. Gov't; Support, U.S. Gov't, Non-P.H.S.; Support, U.S. Gov't, P.H.S.; Viral Proteins/*genetics
AD Gerard D. Schellenberg, Leojean Anderson, Sheldon O'dahl, Ellen M. Wisjman, Eric B. Larson, Walter A. Kukull, George M. Martin, University of Washington, Seattle 98195, USA; Adele D. Sadovnick, Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Melvyn J. Ball, Division of Neuropathology, Oregon Health Sciences University, Portland, USA; Allen D. Roses, Division of Neurology, Department of Medicine, Duke University Medical Center, Durham, NC, USA; Thomas D. Bird, Division of Neurology, Veterans Administration Medical Center, Seattle, USA
SP englisch
PO USA