title: [Detection of deltaF508 deletion causing cystic fibrosis, using quantitative real-time PCR].
abstract: BACKGROUND
  Cystic fibrosis is the most common autosomal recessive lethal genetic disorder in the Caucasian population. There are about 1400 mutation in the cystic fibrosis transmembrane regulator gene, which makes the molecular diagnosis difficult, while luckily in Hungary the cause is the deltaF508del in almost 60% of the cases.
  
  
  METHODS
  The authors introduced the quantitative real-time PCR and melting curve analysis method for the detection of deltaF508del. They studied 94 samples (70 blood, 16 chorionic villi, 8 amniotic fluids).
  
  
  RESULTS
  They found 52 healthy normal, 36 heterozygotic and 5 homozygotic samples and one deltaF508C homozygotic sample.
  
  
  CONCLUSIONS
  The quantitative real-time PCR and melting curve analysis is a reliable and fast method for detection of deltaF508del. The results are available in one hour following the DNA isolation. The primer-probe set makes available the deltaF508Cdel detection too.
authors.affiliation: Semmelweis Egyetem, Altalános OrvostudományiKar, I. Szälészeti es Nogyógyászati Klinika, Budapest.
authors.forename: Bálint
authors.initials: B
authors.lastname: Nagy
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Bán
authors.forename: Levente
authors.initials: L
authors.lastname: Lázár
authors.forename: Gyula Richárd
authors.initials: GR
authors.lastname: Nagy
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Papp
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D010649:Phenylalanine; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D010649:Phenylalanine