30 KB116 KB19 KB192920262008Kralj, EvaPajič, TadejŠkerget, MatevžVučković, Joškoštevilka:15 straniletnik:77str. I-57-I-61ISSN:1318-0347COBISSID:24128473URN:URN:NBN:SI:doc-H3PAZCW6slSlovensko zdravniško društvoZdravniški vestnikAleliAllelesdiagnostikaFiladelfija kromosomGeneticsgeniGranulocitiGranulocyteshematologijakrvne bolezniMielofibrozamieloproliferativne bolezniMutacijamutacijeMutationMyelofibrosisPhiladelphia ChromosomePolicitemija veraPolimerazna, verižna reakcijaPolycythemia VeraPolymerase Chain ReactionThrombocythemia, HemorrhagicTrombocitemija hemoragičnaPrisotnost deleža mutiranega alela JAK2 V617F pri kroničnih mieloproliferativnih boleznih| JAK2 V617F allele burden in chronic myeloproliferative diseases|Background Chronic myeloproliferative disorders (CMPD) are a group of conditions affecting the stem cell causing over-production of one or more of the blood cells. The presence of Ph chromosome distinguishes chronic myeloid leukemia (CML) from other diseases of the group. JAK2 V617F mutation is present in 76-97% of patients with polycythaemia vera (PRV), 29-75% of patients with essential thrombocythaemia (ET) and 50% of patients with chronicidiopathic myelofibrosis (CIMF). The JAK2 V617F allele burden correlates with the clinical picture of the diseases. Methods We involved 110 patients with ET, PRV and CIMF in whom we already had extracted DNA samples from granulocytes. We established the JAK2 V617F allele burden in the DNA of granulocytes by using real-time polymerase chain reaction (RQ-PCR). Results The mean allele burden of JAK2 V617F is 25% in patients with ET, 47% in patients with PRV and 85% in patients with CIMF. There is a statistically significant correlation between the allele burden and the number of leukocytesin peripheral blood. Conclusion The mean allele burden of JAK2 V617Fis different in ET, PRV and CIMF. It is plausible that the three seperatediseases are only different clinical pictures of the same CMPD depending on the allele burden. The allele burden strongly correlates with theperipheral blood countTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaSlovensko zdravniško društvo