Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method

Crkvenac-Gornik, Kristina and Grubić, Zorana and Štingl, Katarina and Mužinić, Dubravka and Brkljačić-Kerhin, Vesna and Begović, Davor (2007) Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method. Collegium Antropologicum, 31 (3). pp. 859-862. ISSN 0350-6134

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Abstract

In this study we reported the results for the first time of applying Polymerase Chain Reaction-Short Tandem Repeats (PCR-STR) method in the field of detection of aneuploidies for chromosomes 21 and 18 in Croatians. The aims of the study were: (I) validation of the diagnostic informativeness of 6 STR loci (D18S51, D18S858, D18S535, D21S1435, D21S1411, and D21S1414) in sample of 205 unrelated healthy individuals; (II) evaluation of diagnostic power of the PCR-STR method for those 6 microsatellites; (III) establishment protocol for use STRs as routine method for rapid prenatal detection of trisomy 21 and 18. DNA samples were amplified by fluorescence-based PCR reaction, subjected to electrophoresis in automated laser fluorescence DNA sequencer (ALFexpress). Results of our study were: (I) all 6 tested loci are informative (68-85% of heterozygous individuals); (II) comparison between PCR-STR method and conventional cytogenetics did not revealed any false positive or false negative results; (III) in prenatal screening of 105 samples of uncultured amniotic fluid 6 (5.7%) samples with chromosomal abnormalities were identified.

Abstract in Croatian

U ovom istraživanju su po prvi puta prikazani rezultati analize trisomija kromosoma 21 i 18 primjenom metode PCR-STR (lančana reakcija polimerazom – kratka uzastopna ponavljanja) u hrvatskoj populaciji. Ciljevi ovog rada bili su: (I) Istražiti informativnost 6 lokusa STR (D18S51, D18S858, D18S535, D21S1435, D21S1411 i D21S1414) na uzorku od 205 zdravih nesrodnih osoba; (II) Ocijeniti dijagnostičku vrijednost metode PCR-STR za navedene mikrosatelitske lokuse; (III) Razviti protokol za brzo otkrivanje trisomija 21 i 18 primjenom metode PCR-STR kao rutinske metode u prenatalnoj dijagnostici. Uzorci DNA amplificirani su metodom PCR, dužina alela lokusa STR određena je elektroforezom u automatskom laser sekvenceru (ALFexpress). Rezultati istraživanja su: (I) Svih 6 lokusa STR su informativni (68–85% osoba su bili heterozigoti); (II) Usporedba metode PCR-STR s metodom klasične citogenetike nije pokazala ni lažno pozitivne, kao ni lažno negativne rezultate; (III) Prenatalnim pretraživanjem 105 uzoraka nekultiviranih plodovih voda otkrivena je promjena u broju kromosoma kod 6 (5,7%) uzoraka.

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