Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.
A mutation at codon 717 of the beta-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family. This mutation has been reported in a further five out of approximately 100 families multiply affected by Alzheimer's disease. We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 in affected individuals from this family has revealed a base change producing a Val----Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.
Chartier-Harlin
M C
MC
Department of Biochemistry, St Mary's Hospital Medical School, Imperial College, London, UK.
Crawford
F
F
Houlden
H
H
Warren
A
A
Hughes
D
D
Fidani
L
L
Goate
A
A
Rossor
M
M
Roques
P
P
Hardy
J
J
D000544:Alzheimer Disease / Q000235:genetics*; D000595:Amino Acid Sequence; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001482:Base Composition; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005091:Exons; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction
D016564:Amyloid beta-Protein Precursor; D003062:Codon; D009838:Oligodeoxyribonucleotides