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001-es BibID:	BIBFORM065327
Első szerző:	Nagy Bálint (molekuláris genetikus)
Cím:	Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci / Balint Nagy, Zoltán Bán, Levente Lázár, Richárd Gyula Nagy, Csaba Papp, Ernő Tóth-Pál, Zoltan Papp
Dátum:	2005
ISSN:	0197-3851
Megjegyzések:	OBJECTIVES: Rapid detection of trisomy 21 is an important goal for prenatal genetic centers. Fluorescent-PCR and DNA fragment analysis was developed a decade ago and thousands of samples were analyzed in routine practice using 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 of Hungarian patients. METHODS: DNA was isolated with silica adsorption method from amniotic fluid cells. We investigated 67 trisomy 21 and 62 diploid samples in the study. Quantitative real-time PCR was performed using hybridization probes combined 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 cases and WIAF 2643 in 48.83%. The melting curve area ratios were significantly different between trisomic and normal cases for WIAF 899 (trisomic 0.5246 +/- 0.2498 vs 0.8347 +/- 0.5234; p < 0.001), while in the case of WIAF 2643, they were not different. CONCLUSION: Combined and selected SNP markers could be valuable tools for rapid trisomy 21 detection in prenatal genetic screening.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Trisomy21 amniotic fluid SNP determination rapid
Megjelenés:	Prenatal Diagnosis. - 25 : 12 (2005), p. 1138-1141. -
További szerzők:	Bán Zoltán (nőgyógyász) Lázár Levente (szülész-nőgyógyász) Nagy Richárd Gyula Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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