Quantitative fluorescent PCR

Summary: 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...

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Permalink: http://skupnikatalog.nsk.hr/Record/nsk.NSK01000710168/Details
Matična publikacija: Croatica chemica acta
81 (2008), 1 ; str. 219-222
Glavni autor: Pavlinić, Dinko (-)
Ostali autori: Džijan, Snježana (-), Stipoljev, Feodora, Wagner, Jasenka, Ćurić, Goran, Lauc, Gordan
Vrsta građe: Članak
Jezik: eng
Predmet:
Online pristup: CROATICA CHEMICA ACTA
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041 0 |a eng  |b hrv 
042 |a croatica 
080 |a 575  |2 MRF 1998. 
080 |a 618  |2 MRF 1998. 
100 1 |a Pavlinić, Dinko 
245 1 0 |a Quantitative fluorescent PCR :  |b a rapid approach to prenatal diagnostics of common autosomal aneuploidies /  |c Dinko Pavlinić, Snježana Džijan, Feodora Stipoljev, Jasenka Wagner, Goran Ćurić and Gordana Lauc. 
300 |b Ilustr. 
504 |a Bibliografija: 12 jed 
504 |a Sažetak 
520 8 |a Summary: 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 
653 |a Prenatalna dijagnostika  |a Polimerazna lančana reakcija  |a Kratki udvojeni slijed  |a Amplifikacija gena  |a Heterozigotnost  |a Kromosomske aberacije  |a Aneuploidija 
653 5 |a Hrvatska 
700 1 |a Džijan, Snježana 
700 1 |a Stipoljev, Feodora 
700 1 |a Wagner, Jasenka 
700 1 |a Ćurić, Goran 
700 1 |a Lauc, Gordan 
773 0 |t Croatica chemica acta  |x 0011-1643  |g 81 (2008), 1 ; str. 219-222  |w nsk.(HR-ZaNSK)000001621 
981 |b B02/08  |p CRO 
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856 4 2 |u http://public.carnet.hr/ccacaa/  |y CROATICA CHEMICA ACTA