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Cornelia Patry

The Promoter Variant -1639 G A in the VKORC1 Gene


Influence on Gene Expression in HepG2 Cells
2010. 80 S.
Verlag/Jahr: VDM VERLAG DR. MÜLLER 2010
ISBN: 3-639-26288-3 (3639262883)
Neue ISBN: 978-3-639-26288-9 (9783639262889)

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Due to its vital functions in the vitamin-K- metabolism the gene VKORC1 has recently become a popular subject of genetic and medical research. The enzyme expressed by the gene influences the activity of clotting factors and thus of blood clotting. Some polymorphisms that have been discovered in VKORC1 seem to alter expression levels and additionally influence the organism´s reaction to oral anticoagulants. Presumably they also influence the risk for cardiovascular diseases, such as thrombosis. Still, it is yet unclear which genetic variants are in fact biologically relevant. The work at hand focuses on the polymorphism G-1639A and its influence on a liver cell line. Furthermore it is supposed to give an insight into genetic methods currently used in scientific research.
Cornelia Patry, born 1982 in Vienna. Master´s Degree in Biology from the University of Vienna, specialising in Anthropology and Human Genetics. Diplomarbeit am AKH Wien. Since January 2010 Research Associate in DNA Technology at Baxter BioScience in Austria.