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.
Chartier-Harlin
M C
MC
Alzheimer's Disease Research Group, Department of Biochemistry, St. Mary's Hospital Medical School, London, U.K.
Crawford
F
F
Hamandi
K
K
Mullan
M
M
Goate
A
A
Hardy
J
J
Backhovens
H
H
Martin
J J
JJ
Broeckhoven
C V
CV
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