Pregled bibliografske jedinice broj: 549404
Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities
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
Profili:
Katarina Štingl Janković
(autor)
Zorana Grubić
(autor)
Kristina Crkvenac
(autor)
Davor Begović
(autor)
Ivana Tonković Đurišević
(autor)
Citiraj ovu publikaciju:
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