title: Testing for mutations in exon 17 of the beta-amyloid precursor protein gene in Finnish Alzheimer patients and normal subjects.
abstract: Mutations in the beta-amyloid precursor protein gene on chromosome 21 were shown to cause a small proportion of Alzheimer's disease. We studied the occurrence of the point mutations in exon 17 of the beta-amyloid precursor protein gene in a sample of Finnish familial Alzheimer patients and nondemented controls using polymerase chain reaction and a single strand conformation polymorphism technique. In addition, mutations in familial Alzheimer's disease patients were studied by sequencing the amplified products. Interestingly, two probable polymerase chain reaction errors were detected in codons 717 and 693 of the exon 17. However, no mutations in the exon 17 were confirmed adding the study to the body of literature that mutations in the exon 17 are a rare cause of familial Alzheimer's disease.
authors.affiliation: Department of Neurology, University of Kuopio, Finland.
authors.forename: O
authors.initials: O
authors.lastname: Heinonen
authors.forename: K
authors.initials: K
authors.lastname: Kurvinen
authors.forename: H
authors.initials: H
authors.lastname: Soininen
authors.forename: H
authors.initials: H
authors.lastname: Koponen
authors.forename: S
authors.initials: S
authors.lastname: Syrjänen
authors.forename: P J
authors.initials: PJ
authors.lastname: Riekkinen
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D005091:Exons; D005260:Female; D005387:Finland; D005796:Genes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D016564:Amyloid beta-Protein Precursor