Rapid detection of trisomy 21 is an important goal of prenatal genetic centers. Fluorescent-PCR and DNA fragment analysis was developed a decade ago and thousands of samples were analyzed routinely applying this method. Quantitative real-time PCR with melting curve analysis using SNP markers for trisomy 21 detection was described recently. We studied the reliability of this method on a cohort of samples in Hungarian patients. Methods: DNA was isolated with silica adsorption method from amniotic fluid cells. Quantitative-PCRs were performed using hybridization probes on Light-Cycler with melting curve analysis. Peak areas under the derivative curves were determined and analyzed. Results: The SNP marker WIAF 899 was informative in 41.86 % of the cases in the Hungarian population. The melting curve area ratios were significantly different between trisomic and normal cases for SNP marker WIAF 899 (trisomic 0.5246±0.2498 vs 0.8347±0.5234; p<0.001). Conclusion: Combined and selected SNP markers could be valuable tools for rapid trisomy 21 detection in prenatal genetic screening.
|Translated title of the contribution||Detection of trisomy 21 using SNP polymorphism|
|Number of pages||4|
|Journal||Magyar Noorvosok Lapja|
|Publication status||Published - Oct 17 2005|
ASJC Scopus subject areas
- Reproductive Medicine
- Obstetrics and Gynaecology