ABSTRACT
<p><b>OBJECTIVE</b>To investigate the frequency of JAK2 V617F gene (hereinafter, the JAK2 gene) mutation in Uyghur patients with chronic myeloproliferative neoplasm (MPN) and its relationship with the clinical characteristics, and further compare differences of mutation rates in Han and Uyghur patients.</p><p><b>METHODS</b>The allele-specific polymerase chain reaction (AS-PCR) was used to detect the JAK2 mutation in 55 cases of Uyghur and 79 cases of Han bcr-abl negative MPN patients.</p><p><b>RESULTS</b>(1) JAK2 mutation rate was 73.1% (98/134); The mutation rates of polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis were 84.3% (43/51), 69.7% (46/66) and 52.9% (9/17), respectively (P < 0.05). (2) The difference of mutation rate in Han \[78.5% (62/79)\] and Uyghur \[65.5% (36/55)\] patients was not significant (P > 0.05). (3) The patients of JAK2 positive have significantly higher count of blood cells, splenomegaly, thrombosis/bleeding and transformation than those of JAK2 negative ones (P < 0.05), but the clinical features between two ethnic groups were not significant (P > 0.05).</p><p><b>CONCLUSION</b>JAK2 gene mutation occurred in the majority of patients with MPN; the mutation rates, clinical features and the complications between Han and Uyghur patients were not significant, which implicated that MPN patients with JAK2 mutation from different regions and ethnics may have the same molecular pathogenesis.</p>