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Pregled bibliografske jedinice broj: 409134

Rapid Prenatal Diagnosis of Numerical Aberrations of Chromosome 21 and 18 by PCR-STR Method


Crkvenac-Gornik, Kristina; Grubić, Zorana; Štingl, Katarina; Mužinić, Dubravka; Brkljačić-Kerhin, Vesna; Begović, Davor
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)


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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


Citiraj ovu publikaciju:

Crkvenac-Gornik, Kristina; Grubić, Zorana; Štingl, Katarina; Mužinić, Dubravka; Brkljačić-Kerhin, Vesna; Begović, Davor
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)
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.
@article{article, author = {Crkvenac-Gornik, Kristina and Grubi\'{c}, Zorana and \v{S}tingl, Katarina and Mu\v{z}ini\'{c}, Dubravka and Brklja\v{c}i\'{c}-Kerhin, Vesna and Begovi\'{c}, Davor}, year = {2007}, pages = {859-862}, keywords = {aneuplodies, PCR, prenatal diagnosis, STR, Croatia}, journal = {Collegium antropologicum}, volume = {31}, number = {3}, issn = {0350-6134}, title = {Rapid Prenatal Diagnosis of Numerical Aberrations of Chromosome 21 and 18 by PCR-STR Method}, keyword = {aneuplodies, PCR, prenatal diagnosis, STR, Croatia} }
@article{article, author = {Crkvenac-Gornik, Kristina and Grubi\'{c}, Zorana and \v{S}tingl, Katarina and Mu\v{z}ini\'{c}, Dubravka and Brklja\v{c}i\'{c}-Kerhin, Vesna and Begovi\'{c}, Davor}, year = {2007}, pages = {859-862}, keywords = {aneuplodies, PCR, prenatal diagnosis, STR, Croatia}, journal = {Collegium antropologicum}, volume = {31}, number = {3}, issn = {0350-6134}, title = {Rapid Prenatal Diagnosis of Numerical Aberrations of Chromosome 21 and 18 by PCR-STR Method}, keyword = {aneuplodies, PCR, prenatal diagnosis, STR, Croatia} }

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





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