A 21-es chromosoma trisomiájának kimutatása egynukleotidos polymorphismus (SNP) marker felhasználásával

Translated title of the contribution: Detection of trisomy 21 using SNP polymorphism

Bálint Nagy, Zoltán Bán, Levente Lázár, Gyula Richárd Nagy, Csaba Papp, Erno Tóth-Pál, Zoltán Papp

Research output: Contribution to journalArticle


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 contributionDetection of trisomy 21 using SNP polymorphism
Original languageHungarian
Pages (from-to)315-318
Number of pages4
JournalMagyar Noorvosok Lapja
Issue number5
Publication statusPublished - Oct 17 2005

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynaecology

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