1. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
- Author
-
Harry Houlden, Janet A. Johnston, Mike Hutton, Bengt Winblad, Jordi Pérez-Tur, Alonso Martínez, N Mehta, Ken Kosik, Karin Axelman, Lena Lilius, M. Arcos, C Humphreys, C Zehr, Alison Goate, Mark Raymond Adams, Julie S. Snowden, Corinne Lendon, Chad G. Pearson, Cline Rt, Venter Jc, Lotta Forsell, David G. Mann, Matti Viitanen, S Sarner, R Harvey, Lars Lannfelt, John Collinge, Lucia Madrigal, T Ashworth, Maria I. Behrens, Karen Duff, Robert Clark, John Hardy, George Roberts, Nick C. Fox, Dennis W. Dickson, Kevin M. Korenblat, John C. Morris, Sue Froelich, Amanda J. Myers, Martin N. Rossor, Richard Crook, Minna Pöyhönen, Francisco Lopera, Christopher Talbot, Phillips Ca, Michelle Wragg, M Baker, P Roques, C He, Jorge Ossa, Adriana Ruiz, D Neary, F. Busfield, Joanne Norton, Rebecca A. Fuldner, Eric Karran, A Kennedy, Matti Haltia, Guy Prihar, R Cowburn, Peter L. Lantos, and Sarah Lincoln
- Subjects
Genetic Linkage ,Molecular Sequence Data ,Pedigree chart ,Biology ,Polymerase Chain Reaction ,Presenilin ,03 medical and health sciences ,0302 clinical medicine ,Genetic linkage ,Alzheimer Disease ,Genetics ,Presenilin-1 ,Humans ,Point Mutation ,Family ,Amino Acid Sequence ,Age of Onset ,Gene ,030304 developmental biology ,Early onset ,DNA Primers ,Chromosomes, Human, Pair 14 ,0303 health sciences ,Genomic Library ,Base Sequence ,Alternative splicing ,Age Factors ,Chromosome ,Chromosome Mapping ,Membrane Proteins ,Exons ,Introns ,Pedigree ,Alternative Splicing ,Human genome ,030217 neurology & neurosurgery - Abstract
Genetic linkage studies place a gene causing early onset familial Alzheimer's disease (FAD) on chromosome 14q24.3 (refs 1–4). Five mutations within the S182 (Presenilin 1: PS–1) gene, which maps to this region, have recently been reported in several early onset FAD kindreds5. We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM26 (Presenilin 2: PS-2) gene.
- Published
- 1995