Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci.
Prenat Diagn
; 25(12): 1138-41, 2005 Dec.
Article
en En
| MEDLINE
| ID: mdl-16231333
ABSTRACT
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Síndrome de Down
/
Polimorfismo de Nucleótido Simple
/
Líquido Amniótico
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Prenat Diagn
Año:
2005
Tipo del documento:
Article
País de afiliación:
Hungria