Pregled bibliografske jedinice broj: 409134
Rapid Prenatal Diagnosis of Numerical Aberrations of Chromosome 21 and 18 by PCR-STR Method
Rapid Prenatal Diagnosis of Numerical Aberrations of Chromosome 21 and 18 by PCR-STR Method // Collegium antropologicum, 31 (2007), 3; 859-862 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 409134 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Rapid Prenatal Diagnosis of Numerical Aberrations of Chromosome 21 and 18 by PCR-STR Method
Autori
Crkvenac-Gornik, Kristina ; Grubić, Zorana ; Štingl, Katarina ; Mužinić, Dubravka ; Brkljačić-Kerhin, Vesna ; Begović, Davor
Izvornik
Collegium antropologicum (0350-6134) 31
(2007), 3;
859-862
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
aneuplodies; PCR; prenatal diagnosis; STR; Croatia
Sažetak
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.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Profili:
Dubravka Mužinić-Belinec
(autor)
Davor Begović
(autor)
Vesna Brkljačić-Kerhin
(autor)
Kristina Crkvenac
(autor)
Zorana Grubić
(autor)
Katarina Štingl Janković
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Social Science Citation Index (SSCI)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE