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- W2804048769 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 a 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." @default.
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- W2804048769 date "2006-09-06" @default.
- W2804048769 modified "2023-09-26" @default.
- W2804048769 title "Development and application of PCR-STR method for rapid prenatal diagnosis of chromosomes 21 and 18 aneuploidies" @default.
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