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PRENATAL DETECTION OF THE DELTA F 508 MUTATION USING FLUORESCENT PCR AND COMPARISON OF THE RESULTS WITH CONVENTIONAL PCR
Authors:Balint Nagy   Erno Toth-Pal  Csaba Papp  Zoltan Ban  Zoltan Papp
Abstract:Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians. The most frequent mutation associated with cystic fibrosis has been identified as the 3 bp deletion Delta F 508. While existing polymerase chain reactions (PCR) (allele specific amplification) used to screen for CF are both sensitive and specific, we tested the prenatal application of fluorescent polymerase chain reaction and subsequent DNA fragment analysis that appears to be fast and sensitive. DNA samples (n=146) isolated from amniotic fluid (n=108), chorion villus biopsies (n=6), and human peripheral blood (n=32) were analyzed for the presence of Delta F 508 using the fluorescent method. Of these, 10 carriers of Delta F 508 mutation were detected. We achieved the same results with conventional PCR and fluorescent PCR.
Keywords:Cystic Fibrosis  Dna Fragment Analysis  Fluorescent Pcr
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