Original scientific paper

Quantitative Fluorescent PCR – A Rapid Approach to Prenatal Diagnostics of Common Autosomal Aneuploidies

Dinko Pavlinić ; School of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia
Snježana Džijan ; School of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia
Feodora Stipoljev ; General Hospital »Sveti Duh«, Zagreb, Croatia
Jasenka Wagner ; School of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia
Goran Ćurić ; School of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia
Gordan Lauc ; School of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia

Abstract

Autosomal trisomies account for more than 80 % of significant chromosomal disorders and are routinely detected by the cytogenetic analysis of cultivated amniotic fluid cells. However, this approach is time-consuming and requires a significant level of training and expertise. The main aim of our work was to introduce QF-PCR to our lab, a quicker, simpler and cheaper method. We also aimed to evaluate the usefulness of the chosen marker set in the Croatian population and the reliability and accuracy of the obtained results. STR loci from chromosomes 13, 18 and 21 were co-amplified, separated by capillary electrophoresis and analysed. Characteristic triplets and/or 2:1 patterns were detected for trisomic samples while normal samples were either homozygous or heterozygous. The tested set of loci showed high heterozygosity and therefore a good potential for analyzing the Croatian population. The results of QF-PCR were in full compliance with the cytogenetic analysis which was also performed for cultivated amniotic fluid cell samples.

Keywords

QF-PCR; prenatal diagnostics; chromosomal aneuploidy; amniotic fluid

Hrčak ID:

23449

URI

https://hrcak.srce.hr/23449

Publication date:

15.4.2008.

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