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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 frequency and type of mutations of exon 12 and exon 14 of JAK2 gene in the blood samples of myeloproliferative neoplasm (MPN) and myelodysplastic syndrome (MDS) patients with MPN subtypes and MDS relationship. Methods One hundred and four MPN patients were MPN group, 12 MDS patients were MDS group and 20 healthy control subjects were control group. DNA was extracted from three groups and quantified by DNA extraction kit. The JAK2 exon 12,14 Sequence, using direct sequencing to detect the gene sequence, analyze the frequency and type of JAK2 gene mutation and its relationship with MPN subtypes and MDS. Results No exon 12 and exon 14 of JAK2 gene were detected in control group, but no exon 12 mutation in JAK2 gene was detected in MPN and MDS groups. The exon 14 mutation rate of JAK2 gene in MPN group was significantly higher than that of exon 14 MDS group (8.3%) (P <0.05). The exon 14 mutation rate of JAK2 gene in MPN group was significantly higher than that in primary myelofibrosis group (30.8%) and chronic myeloid leukemia (18.2%) (P <0.05). There was no significant difference between them (52.5%) and patients with essential thrombocythemia (P> 0.05). Conclusion The mutation of JAK2 gene is found in patients with MPN and MDS, and the mutation rate of MPN is higher than that of MDS. The mutation rate of JAK2 gene is different among MPN subtypes.