prikaz prve stranice dokumenta Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities
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Scientific paper - Original scientific paper
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. https://doi.org/10.3325/cmj.2011.52.392
Crkvenac Gornik, Kristina; Grubić, Zorana; Štingl, Katarina; Tonković Đurišević, Ivana; Begović, Davor

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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

Crkvenac Gornik, Kristina, et al. "Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities." Croatian Medical Journal, vol. 52, no. 3, 2011, pp. 392-395. https://doi.org/10.3325/cmj.2011.52.392

Crkvenac Gornik, Kristina, Zorana Grubić, Katarina Štingl, Ivana Tonković Đurišević and Davor Begović. "Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities." Croatian Medical Journal 52, no. 3 (2011): 392-395. https://doi.org/10.3325/cmj.2011.52.392

Crkvenac Gornik, K., et al. (2011) 'Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities', Croatian Medical Journal, 52(3), pp. 392-395. doi: 10.3325/cmj.2011.52.392

Crkvenac Gornik K, Grubić Z, Štingl K, Tonković Đurišević I, Begović D. Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities. Croatian Medical Journal [Internet]. 2011 June [cited 2024 November 30];52(3):392-395. doi: 10.3325/cmj.2011.52.392

K. Crkvenac Gornik, Z. Grubić, K. Štingl, I. Tonković Đurišević and D. Begović, "Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities", Croatian Medical Journal, vol. 52, no. 3, pp. 392-395, June 2011. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:863810. [Accessed: 30 November 2024]

Metadata
Title (english)Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities
AuthorKristina Crkvenac Gornik
AuthorZorana Grubić
AuthorKatarina Štingl
AuthorIvana Tonković Đurišević
AuthorDavor Begović
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Abstract (english)
AIM: To determine the value of short-tandem repeat markers on the chromosome X (X-STR) for prenatal diagnostics of the chromosome X numerical disorders. ----- METHODS: 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. ----- RESULTS: 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. ----- CONCLUSION: 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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCroatian Medical Journal
Numberingvol. 52, no. 3, pp. 392-395
p-ISSN0353-9504
DOIhttps://doi.org/10.3325/cmj.2011.52.392
URN:NBNurn:nbn:hr:105:863810
Publication2011-06
Document URLhttp://www.cmj.hr/2011/52/3/21674836.htm
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-27 19:13:46