Screening for presenilin-1 gene mutations by PCR-SSCP analysis in patients with early-onset Alzheimer's disease

Folia Neuropathol. 1998;36(1):32-7.

Abstract

The majority of early-onset familial Alzheimer's disease (EOAD) has been associated with mutations in a novel gene on chromosome 14 which has been termed presenilin-1 gene. We screened for mutations within the presenilin-1 gene in twenty patients with EOAD using a PCR-SSCP analysis. We found three aberrant (mutant?) band patterns for exons 4 and 7 in three unrelated patients.

Publication types

  • Clinical Trial

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / diagnosis*
  • Alzheimer Disease / genetics*
  • Apolipoproteins E / genetics
  • Chromosomes, Human, Pair 14*
  • Female
  • Gene Frequency
  • Genetic Testing / methods*
  • Genotype
  • Humans
  • Male
  • Membrane Proteins / analysis
  • Membrane Proteins / genetics
  • Middle Aged
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Presenilin-1

Substances

  • Apolipoproteins E
  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1