title: Improved direct sequencing of Alzheimer's amyloid precursor protein (APP) exons 16 and 17.
abstract: Direct sequencing of exon 17 of the amyloid precursor protein (APP) gene led to the identification of 3 different types of APP717 pathogenic mutations associated with familial Alzheimer's disease (FAD). The low frequency of these mutations results in having to screen many samples in order to identify new families affected by them, which is laborious and time consuming. Thus, in order to help the identification of these mutations in additional countries and to search for new mutations in APP, perhaps in other exons also causing FAD, we have optimized the procedure and reduced the time necessary for sample preparation from 11 h to 3 1/2 h.
authors.affiliation: Molecular Genetics Research Group, Faculty of Medicine, University of Barcelona, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Adroer
authors.forename: M C
authors.initials: MC
authors.lastname: Chartier-Harlin
authors.forename: F
authors.initials: F
authors.lastname: Crawford
authors.forename: R
authors.initials: R
authors.lastname: Oliva
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism; D016564:Amyloid beta-Protein Precursor / Q000096:biosynthesis / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005784:Gene Amplification; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: D016564:Amyloid beta-Protein Precursor