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001-es BibID:BIBFORM074841
Első szerző:Nagy Bálint (molekuláris genetikus)
Cím:Detection of [delta]F508del Using Quantitative Real-Time PCR, Comparison of the Results Obtained by Fluorescent PCR / Bálint Nagy, Gyula Richárd Nagy, Levente Lázár, Zoltán Bán, Zoltán Papp
Dátum:2007
ISSN:1015-3837
Megjegyzések:OBJECTIVE:Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population. The molecular diagnosis is difficult since there are about 1,000 mutations in the CF transmembrane regulator gene. The DeltaF508del is the cause of the CF in 64% of the cases in Hungary. Our aim was to compare two polymerase chain reaction (PCR)-based method for the detection of DeltaF508del.METHODS:One hundred and sixteen DNA samples isolated from different tissues (84 blood samples, 18 chorionic villus samples and 14 amniotic fluid samples) were involved in the study. Fluorescent PCR with DNA fragment analysis and quantitative real-time PCR with melting curve analysis were performed on the DNA samples for the detection of DeltaF508del.RESULTS:Sixty-five healthy normal samples, 43 heterozygous samples, 6 DeltaF508del homozygous samples and 2 DeltaF508C homozygous samples were detected by using quantitative real-time PCR combined with melting curve analysis. The fluorescent PCR method did not detect the DeltaF508C mutation and these two samples were diagnosed as normal healthy ones.CONCLUSIONS:The quantitative real-time PCR with melting curve analysis is a reliable and fast method for the detection of DeltaF508del. The results are ready in 1 h following the DNA isolation. The applied primer-probe set with melting curve analysis gives additional information for the presence of other mutations in the DeltaF508del region.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
deltaF508
cystic fibrosis
real-time PCR
Megjelenés:Fetal Diagnosis and Therapy. - 22 : 1 (2007), p. 63-67. -
További szerzők:Nagy Gyula Richárd (szülész-nőgyógyász) Lázár Levente (szülész-nőgyógyász) Bán Zoltán (nőgyógyász) Papp Zoltán
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