Repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

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

Crkvenac Gornik, Kristina and Grubić, Zorana and Štingl, Katarina and Tonković Đurišević, Ivana and Begović, Davor (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. ISSN 0353-9504

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    English abstract

    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.

    Item Type: Article
    MeSH: Base Sequence/genetics ; Chi-Square Distribution ; Croatia ; Female ; Gene Amplification ; Genes, X-Linked/genetics ; Humans ; Male ; Microsatellite Repeats/genetics ; Polymerase Chain Reaction ; Predictive Value of Tests ; Prenatal Diagnosis ; Sex Chromosome Disorders/diagnosis ; Sex Chromosome Disorders/genetics ; Time Factors
    Divisions: Katedra za pedijatriju
    Depositing User: Marijan Šember
    Status: Published
    Creators:
    CreatorsEmail
    Crkvenac Gornik, Kristina
    Grubić, Zorana
    Štingl, Katarina
    Tonković Đurišević, Ivana
    Begović, Davor
    Date: June 2011
    Date Deposited: 23 Jan 2012 12:15
    Last Modified: 23 Jan 2012 12:15
    Subjects: /
    Related URLs:
    URI: http://medlib.mef.hr/id/eprint/1444

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