Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 549404

Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities


Crkvenac Gornik, Kristina; Grubić, Zorana; Štingl, Katarina; Tonković Đurišević, Ivana; Begović, Davor
Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities // Croatian medical journal, 52 (2011), 3; 392-395 doi:10.3325/cmj.2011.52.392 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 549404 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities

Autori
Crkvenac Gornik, Kristina ; Grubić, Zorana ; Štingl, Katarina ; Tonković Đurišević, Ivana ; Begović, Davor

Izvornik
Croatian medical journal (0353-9504) 52 (2011), 3; 392-395

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
microsatellites ; prenatal detection ; chromosome X ; numerical abnormalities

Sažetak
Aim was To determine the value of short-tandem repeat markers on the chromosome X (X-STR) for prenatal diagnostics of the chromosome X numerical disorders. We investigated the genetic variability of 5 X-markers (DXS9895, DXS6810, DXS6803, GATA172D05, and HPRTB) in 183 healthy Croatian individuals (90 men and 93 women). We also tested 13 patients with X chromosome disorders (Turner syndrome--6 cases ; Klinefelter syndrome--5 cases, and Triple X syndrome--2 cases). The analysis was performed using polymerase chain reaction amplification with specific primers and electrophoresis on a polyacrylamide gel. The study was performed in 2010. Our sample showed no significant differences in allelic frequencies of the investigated X-markers from other European populations. A set of 5 X-STR markers was sufficiently informative for a successful determination of the chromosome X numerical abnormalities. Since no false positive or negative results were observed, diagnostic value of the investigated X-STR loci for prenatal detection of chromosome X numerical disorders was confirmed. Our study represents an important step toward an improved prenatal diagnostics in Croatia.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekti:
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)
214-0000000-3354 - ISTRAŽIVANJA MIKROSATELITA UNUTAR REGIJE GLAVNOG SUSTAVA TKIVNE PODUDARNOSTI (Grubić, Zorana, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Poveznice na cjeloviti tekst rada:

doi www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Citiraj ovu publikaciju:

Crkvenac Gornik, Kristina; Grubić, Zorana; Štingl, Katarina; Tonković Đurišević, Ivana; Begović, Davor
Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities // Croatian medical journal, 52 (2011), 3; 392-395 doi:10.3325/cmj.2011.52.392 (međunarodna recenzija, članak, znanstveni)
Crkvenac Gornik, K., Grubić, Z., Štingl, K., Tonković Đurišević, I. & Begović, D. (2011) Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities. Croatian medical journal, 52 (3), 392-395 doi:10.3325/cmj.2011.52.392.
@article{article, author = {Crkvenac Gornik, Kristina and Grubi\'{c}, Zorana and \v{S}tingl, Katarina and Tonkovi\'{c} \DJuri\v{s}evi\'{c}, Ivana and Begovi\'{c}, Davor}, year = {2011}, pages = {392-395}, DOI = {10.3325/cmj.2011.52.392}, keywords = {microsatellites, prenatal detection, chromosome X, numerical abnormalities}, journal = {Croatian medical journal}, doi = {10.3325/cmj.2011.52.392}, volume = {52}, number = {3}, issn = {0353-9504}, title = {Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities}, keyword = {microsatellites, prenatal detection, chromosome X, numerical abnormalities} }
@article{article, author = {Crkvenac Gornik, Kristina and Grubi\'{c}, Zorana and \v{S}tingl, Katarina and Tonkovi\'{c} \DJuri\v{s}evi\'{c}, Ivana and Begovi\'{c}, Davor}, year = {2011}, pages = {392-395}, DOI = {10.3325/cmj.2011.52.392}, keywords = {microsatellites, prenatal detection, chromosome X, numerical abnormalities}, journal = {Croatian medical journal}, doi = {10.3325/cmj.2011.52.392}, volume = {52}, number = {3}, issn = {0353-9504}, title = {Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities}, keyword = {microsatellites, prenatal detection, chromosome X, numerical abnormalities} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


Citati:





    Contrast
    Increase Font
    Decrease Font
    Dyslexic Font