title: Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.
abstract: 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.
authors.affiliation: Department of Biochemistry, St Mary's Hospital Medical School, Imperial College, London, UK.
authors.forename: M C
authors.initials: MC
authors.lastname: Chartier-Harlin
authors.forename: F
authors.initials: F
authors.lastname: Crawford
authors.forename: H
authors.initials: H
authors.lastname: Houlden
authors.forename: A
authors.initials: A
authors.lastname: Warren
authors.forename: D
authors.initials: D
authors.lastname: Hughes
authors.forename: L
authors.initials: L
authors.lastname: Fidani
authors.forename: A
authors.initials: A
authors.lastname: Goate
authors.forename: M
authors.initials: M
authors.lastname: Rossor
authors.forename: P
authors.initials: P
authors.lastname: Roques
authors.forename: J
authors.initials: J
authors.lastname: Hardy
mesh_terms: 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
chemical_list: D016564:Amyloid beta-Protein Precursor; D003062:Codon; D009838:Oligodeoxyribonucleotides