骨髓增生性肿瘤及骨髓异常增生综合征JAK2基因检测

Detection of JAK2 gene mutation in myeloproliferative neoplasms and myelodysplastic syndrome

目的探讨骨髓增生性肿瘤(myeloproliferative neoplasm,MPN)及骨髓异常增生综合征(myelodysplastic syndrome,MDS)患者血液标本中JAK2基因第12、14外显子基因突变频率和类型与MPN亚型及MDS间的关系。方法 104例MPN患者为MPN组,12例MDS患者为MDS组,体检健康者20例为对照组,3组采用DNA提取试剂盒提取血液DNA后定量,经PCR扩增JAK2外显子12、14序列,采用直接测序法检测基因序列,分析JAK2基因突变频率和类型及其与MPN亚型及MDS的关系。结果对照组未检测到JAK2基因12、14外显子突变,MPN组和MDS组均未检测到JAK2基因12外显子突变;MPN组JAK2基因14外显子突变率(52.9%)明显高于MDS组(8.3%)(P<0.05);MPN组真性红细胞增多症患者JAK2基因14外显子突变率(70.0%)明显高于原发性骨髓纤维化患者(30.8%)和慢性粒细胞白血病患者(18.2%)(P<0.05),与原发性血小板增多症患者(52.5%)比较差异无统计学意义(P>0.05)。结论 JAK2基因突变可见于MPN和MDS患者,且MPN突变率高于MDS;JAK2基因突变率在MPN各亚型间存在差异。

Objective To investigate the relationship of the mutation frequency and type of JAK2 exon 12 and 14 with myeloproliferative neoplasm （MPN） subtype and myelodysplastie syndrome （MDS） in patients with MPN and MDS. Methods Genomic DNA was extracted with DNA extraction kit from the peripheral blood leukocytes of 104 patients with MPN （MPN group）, 12 patients with MDS （MDS group） and 20 healthy volunteers （control group）. JAK2 exon 12 and 14 were analyzed by direct sequencing and the mutation rates of various MPN subtypes were evaluated to explore the relationship of mutation frequency and type of JAK2 exon 12 and 14 with MPN subtype and MDS. Results JAK2 exon 12 and 14 were not found mutation in control group, and JAK2 exon 12 was not found mutation in MPN and MDS groups. The mutation frequency of JAK2 exon 14 in MPN group （52. 9%） was significantly higher than that in MDS group （8.3%） （P〈0.05）. The JAK2 gene exon 14 mutation rate in polycythemia vera patients （70.0%） was significantly higher than that in primary myelofibrosis （30.8 %） and chronic myelogenous leukaemia （18.2% ） patients in MPN group （P〈0.05）, showing no significant difference in comparison with essential thrombocythaemia patients （52.5 %） （P〈 0.05）. Conclusion JAK2 gene mutation occurs in MPN and MDS patients, and the mutation rate of JAK2 gene in MPN patients is higher than that in MDS patients. The mutation rate of JAK2 gene varies in MPN subtypes.