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  • Določanje informativnosti za intragenski označevalec polimorfizma Bcl I in prenatalna diagnostika hemofilije A pri slovenski populaciji = Determination of informativity for the intragenic polymorphic marker Bcl I and prenatal diagnosis of hemophilia A in Slovenian population
    Strmecki, Lana ; Benedik-Dolničar, Majda ; Komel, Radovan
    Background. Hemophilia A is an X-linked bleeding disorder affecting 1 in 5000 males. Genetic prediction of hemophilia A depends upon the analysis of DNA polymorphisms, since the mutation causing the ... defect is generally unknown. Methods. For the prediction of hemophilia A we used Bcl I restriction enzyme as an intragenic polymorphic marker. With the use of Polymerase Chain Reaction we have determined the informativity of Slovene hemophilia A families and carried out three prenatal diagnosis of the disease. Results. 55.6 precent of families which is 48 precent of women are informative for the polymorphic marker. Conclusion. We have established that the Bcl I polymorphic marker is highly informative in the Slovenian population analysed.
    Source: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Let. 64, št. 10, 1995, str. 573-576)
    Type of material - article, component part
    Publish date - 1995
    Language - slovenian
    COBISS.SI-ID - 3693017

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