[Incidence of factor V G1681A (Leiden) mutation in samplings from the Hungarian population]

Thromboembolic disorders affect 0.1% of the adult population. Two main groups of the underlying predisposition factors can be identified: environmental factors (e.g. dietary habits, physical activity, surgical interventions, pregnancy etc.) and several genetic predispositions (e.g. inherited anticoagulant defects). After the discovery of the genetic mutation of factor V, called Leiden mutation, it turned out, that this mutation is responsible for the development of resistance to activated protein C in majority of the cases. The importance of the Leiden mutation is further emphasised by population based investigations, which makes it the most frequent thrombosis risk factor known today. In our study we have identified 43 heterozygotes and 3 homozygotes with Leiden mutation in total of 665 samples. The 6.47% heterozigocy is in the range of earlier reports from Europe. The homozygote/heterozygote distribution deviated from the value predicted by the Hardy-Weinberg law.