Prenatal detection of the ΔF 508 mutation using fluorescent PCR and comparison of the results with conventional PCR

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3 Citations (Scopus)

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 ΔF 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 ΔF 508 using the fluorescent method. Of these, 10 carriers of ΔF 508 mutation were detected. We achieved the same results with conventional PCR and fluorescent PCR.

Original languageEnglish
Pages (from-to)213-219
Number of pages7
JournalPediatric Pathology and Molecular Medicine
Volume18
Issue number3
DOIs
Publication statusPublished - 1998

Fingerprint

Cystic Fibrosis
Polymerase Chain Reaction
Mutation
Chorion
DNA
Amniotic Fluid
Alleles
Biopsy

Keywords

  • Cystic fibrosis
  • DNA fragment analysis
  • Fluorescent PCR

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health

Cite this

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title = "Prenatal detection of the ΔF 508 mutation using fluorescent PCR and comparison of the results with conventional PCR",
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 ΔF 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 ΔF 508 using the fluorescent method. Of these, 10 carriers of ΔF 508 mutation were detected. We achieved the same results with conventional PCR and fluorescent PCR.",
keywords = "Cystic fibrosis, DNA fragment analysis, Fluorescent PCR",
author = "B. Nagy and E. T{\'o}th-P{\'a}l and C. Papp and Z. B{\'a}n and Z. Papp",
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T1 - Prenatal detection of the ΔF 508 mutation using fluorescent PCR and comparison of the results with conventional PCR

AU - Nagy, B.

AU - Tóth-Pál, E.

AU - Papp, C.

AU - Bán, Z.

AU - Papp, Z.

PY - 1998

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N2 - 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 ΔF 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 ΔF 508 using the fluorescent method. Of these, 10 carriers of ΔF 508 mutation were detected. We achieved the same results with conventional PCR and fluorescent PCR.

AB - 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 ΔF 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 ΔF 508 using the fluorescent method. Of these, 10 carriers of ΔF 508 mutation were detected. We achieved the same results with conventional PCR and fluorescent PCR.

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