Original scientific paper
Rapid Prenatal Diagnosis of Numerical Aberrations of Chromosome 21 and 18 by PCR-STR Method
Kristina Crkvenac-Gornik
Zorana Grubić
Katarina Štingl
Dubravka Mužinić
Vesna Brkljačić-Kerhin
Davor Begović
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.
Keywords
aneuplodies; PCR; prenatal diagnosis; STR; Croatia
Hrčak ID:
26900
URI
Publication date:
3.9.2007.
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