Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method.
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.
Crkvenac-Gornik
Kristina
K
Division of Genetics and Metabolism, Clinic of Paediatrics, University Hospital Center, Zagreb, Croatia. kcrkven@kbc-zagreb.hr
Grubić
Zorana
Z
Stingl
Katarina
K
Muzinić
Dubravka
D
Brkljacić-Kerhin
Vesna
V
Begović
Davor
D
D000328:Adult; D000649:Amniocentesis; D054458:Amplified Fragment Length Polymorphism Analysis / Q000379:methods*; D002887:Chromosomes, Human, Pair 18; D017523:Croatia; D004311:Double-Blind Method; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D011247:Pregnancy; D012680:Sensitivity and Specificity; D014314:Trisomy / Q000175:diagnosis*