title: Real time PCR assay with fluorescent hybridization probes for genotyping intronic polymorphism in presenilin-1 gene.
abstract: BACKGROUND
  Identification of all susceptibility loci for Alzheimer's disease has been a major goal in resolving the pathogenesis of this disease.
  
  
  METHODS
  A PCR assay with fluorescently labeled oligonucleotide hybrinization probes with subsequent fluorescent probe melting point analysis was developed.
  
  
  RESULTS
  Allelic discrimination of intronic polymorphism of presenilin-1 gene and the restriction fragment length polymorphism method yielded identical results, proving its usefulness for genotyping PS1 gene.
  
  
  CONCLUSIONS
  This method provides excellent robustness, speed, and accuracy, and is well suited for determination of the polymorphism in both small and large numbers of samples. This assay could help to overcome the controversy regarding the association between the PS1 s165932 intronic polymorphism and Alzheimer's disease.
authors.affiliation: Clinical Analysis Service, University Hospital Virgen de la Arrixaca, Ctra. Madrid-Cartagena s/n, El Palmar, 30120 Murcia, Spain. MMANOTAS@terra.es
authors.forename: Miguel
authors.initials: M
authors.lastname: Rodriguez-Manotas
authors.forename: Manuel
authors.initials: M
authors.lastname: Amorin-Diaz
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Viñals-Bellido
authors.forename: Juan
authors.initials: J
authors.lastname: Cabezas-Herrera
authors.forename: Pedro
authors.initials: P
authors.lastname: Martinez-Hernandez
authors.forename: Francisco
authors.initials: F
authors.lastname: Cañizares-Hernandez
mesh_terms: D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D015342:DNA Probes / Q000737:chemistry / Q000235:genetics*; D005456:Fluorescent Dyes / Q000737:chemistry; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009691:Nucleic Acid Denaturation; D009693:Nucleic Acid Hybridization / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D053764:Presenilin-1; D044366:Transition Temperature
chemical_list: D015342:DNA Probes; D005456:Fluorescent Dyes; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D004247:DNA