Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease.
Screening for the APP717 mutation in 5 further families with early onset Alzheimer's disease failed to reveal further cases with this variant. Screening a further 100 normal individuals for this mutation also failed to reveal further occurrences of this variant in the general population. Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene (the exons which encode the beta-amyloid fragment) in pedigree FAD4 revealed them to be of normal sequence. The significance of these observations to the genetics of Alzheimer's disease is discussed.
Alzheimer's Disease Research Group, Department of Biochemistry, St. Mary's Hospital Medical School, London, U.K.
M C
MC
Chartier-Harlin
F
F
Crawford
K
K
Hamandi
M
M
Mullan
A
A
Goate
J
J
Hardy
H
H
Backhovens
J J
JJ
Martin
C V
CV
Broeckhoven
D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
C094559:APP717; D016564:Amyloid beta-Protein Precursor