[Detection of deltaF508 deletion causing cystic fibrosis, using quantitative real-time PCR].
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.
Nagy
Bálint
B
Semmelweis Egyetem, Altalános OrvostudományiKar, I. Szälészeti es Nogyógyászati Klinika, Budapest.
Bán
Zoltán
Z
Lázár
Levente
L
Nagy
Gyula Richárd
GR
Papp
Zoltán
Z
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
C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D010649:Phenylalanine