title: [A study on mutation of exon 5 of presenilin-1 in Alzheimer's disease].
abstract: OBJECTIVE
  To explore the role of the mutation of presenilin-1 in pathogenesis of sporadic Alzheimer's disease.
  
  
  METHODS
  The exon 5 of presenilin-1 was analysed by using polymerase chain reaction- single strand conformation polymorphism (PCR-SSCP) and ABI 310 genetic analyzer technique in 68 patients with Alzheimer's disease and 65 normal controls.
  
  
  RESULTS
  A mobility shift of SSCP in exon 5 of presenilin-1 was detected in 4 patients with Alzheimer's disease;two missense mutations were found. One mutation was at Leu 130 Met and the other at Val157 Leu. Another mobility shift of SSCP in exon 5 of presenilin-1 was detected in 11 patients with Alzheimer's disease. One missense mutation was at Leu 130 Met and one same sense mutation C462-->T. But no mobility shift of SSCP was found in patients with vascular dementia and in normal controls.
  
  
  CONCLUSIONS
  The authors found that mutations in exon 5 of presenilin-1 also existed in patients with sporadic Alzheimer's disease, which might be one of the points of mutations in sporadic Alzheimer's disease in Chinese.
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University of Medical Science, Guangzhou 510080 P.R.China.
authors.forename: Q
authors.initials: Q
authors.lastname: Ma
authors.forename: C
authors.initials: C
authors.lastname: Qian
authors.forename: Z
authors.initials: Z
authors.lastname: Liu
authors.forename: X
authors.initials: X
authors.lastname: Lu
authors.forename: H
authors.initials: H
authors.lastname: Lin
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1