A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene

Neuroreport. 1995 Dec 29;7(1):297-301.


A series of mutations has been reported in the presenilin-1 (PS-1) gene which cause early onset Alzheimer's disease (AD). The mutations reported to date have encoded missense mutations which alter residues conserved between PS-1 and the presenilin-2 (PS-2) gene. We have recently determined the intron/exon structure of the PS-1 gene and this information has been used to identify a mutation in the splice acceptor site for exon 9 in a family with early onset AD. Amplification of cDNA from lymphoblasts of affected individuals revealed that the effect of the mutation was to cause splicing out of exon 9, however it does not change the open reading frame of the mRNA. The importance of this observation is discussed.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Age of Onset
  • Alternative Splicing
  • Alzheimer Disease / genetics*
  • Base Sequence
  • DNA Primers
  • Exons*
  • Genetic Code
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Presenilin-1
  • RNA, Messenger / genetics


  • DNA Primers
  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1
  • RNA, Messenger