prikaz prve stranice dokumenta Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method
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Scientific paper - Original scientific paper
Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method
Collegium Antropologicum, 31 (2007), 3; 859-862. urn:nbn:hr:105:090007
Crkvenac-Gornik, Kristina; Grubić, Zorana; Štingl, Katarina; Mužinić, Dubravka; Brkljačić-Kerhin, Vesna; Begović, Davor

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Crkvenac Gornik, K., Grubić, Z., Štingl, K., Mužinić, D., Brkljačić Kerhin, V. & Begović, D. (2007). Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method. Collegium Antropologicum, 31. (3), 859-862. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:090007

Crkvenac Gornik, Kristina, et al. "Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method." Collegium Antropologicum, vol. 31, no. 3, 2007, pp. 859-862. https://urn.nsk.hr/urn:nbn:hr:105:090007

Crkvenac Gornik, Kristina, Zorana Grubić, Katarina Štingl, Dubravka Mužinić, Vesna Brkljačić Kerhin and Davor Begović. "Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method." Collegium Antropologicum 31, no. 3 (2007): 859-862. https://urn.nsk.hr/urn:nbn:hr:105:090007

Crkvenac Gornik, K., et al. (2007) 'Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method', Collegium Antropologicum, 31(3), pp. 859-862. Available at: https://urn.nsk.hr/urn:nbn:hr:105:090007 (Accessed 06 January 2025)

Crkvenac Gornik K, Grubić Z, Štingl K, Mužinić D, Brkljačić Kerhin V, Begović D. Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method. Collegium Antropologicum [Internet]. 2007 September [cited 2025 January 06];31(3):859-862. Available at: https://urn.nsk.hr/urn:nbn:hr:105:090007

K. Crkvenac Gornik, Z. Grubić, K. Štingl, D. Mužinić, V. Brkljačić Kerhin and D. Begović, "Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method", Collegium Antropologicum, vol. 31, no. 3, pp. 859-862, September 2007. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:090007. [Accessed: 06 January 2025]

Metadata
Title (english)Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method
AuthorKristina Crkvenac-Gornik
AuthorZorana Grubić
AuthorKatarina Štingl
AuthorDubravka Mužinić
AuthorVesna Brkljačić-Kerhin
AuthorDavor Begović
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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 (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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCollegium Antropologicum
Numberingvol. 31, no. 3, pp. 859-862
p-ISSN0350-6134
URN:NBNurn:nbn:hr:105:090007
Publication2007-09
Document URLhttps://hrcak.srce.hr/26900
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 10:54:08