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.

Key Words:

• cystic fibrosis
• DNA fragment analysis
• fluorescent PCR