A cystás fibrosist okozó F508 deléció kimutatása kvantitatív real-time PCR-módszerrel

Translated title of the contribution: Detection of ΔF508 using quantitative real-time PCR method

Bálint Nagy, Zoltán Bán, Levente Lázar, Gyula Richárd Nagy, Zoltán Papp

Research output: Contribution to journalArticle

Abstract

Introduction: 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 ΔF508del in almost 60% of the cases. Method: The authors introduced the quantitative real-time PCR and melting curve analysis method for the detection of ΔF508del. 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 ΔF508C homozygotic sample. Discussion: The quantitative real-time PCR and melting curve analysis is a reliable and fast method for detection of ΔF508del. The results are available in one hour following the DNA isolation. The primer-probe set makes available the ΔF508Cdel detection too.

Translated title of the contributionDetection of ΔF508 using quantitative real-time PCR method
Original languageHungarian
Pages (from-to)1119-1122
Number of pages4
JournalOrvosi hetilap
Volume147
Issue number24
Publication statusPublished - Jun 18 2006

ASJC Scopus subject areas

  • Medicine(all)

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