骨髓增殖性疾病MPLW515L点突变研究

MPLW515L Point Mutation in Patients with Myeloproliferative Disease

为了探讨MPLW515L和JAK2V617F点突变在南京地区骨髓增殖性疾病(MPD)中的突变情况,采用等位基因特异性聚合酶链反应(AS-PCR)及基因测序方法检测190例MPD患者的MPLW515L和JAK2V617F点突变。结果表明:102例原发性血小板增多症(ET)患者有1例存在MPLW515L点突变,突变率为1.0%;43例存在JAK2V617F点突变,突变率为42.2%。13例特发性骨髓纤维化(IMF)患者未检测到MPLW515L点突变;5例存在JAK2V617F点突变,突变率为38.5%。32例真性红细胞增多症(PV)患者未检测到MPLW515L点突变;20例存在JAK2V617F点突变,突变率为62.5%。43例慢性髓系白血病(CML)患者未检测到MPLW515L和JAK2V617F点突变。结论:AS-PCR检测MPLW515L和JAK2V617F点突变简便可靠。ET患者中可存在MPLW515L点突变,JAK2V617F点突变存在于PV、ET、IMF中,而CML患者不存在JAK2V617F点突变。

In order to investigate the frequency of MPLW515L and JAK2V617F point mutations of the patients with myeloproliferative disease （MPD） in Nanjing area, MPLW515L and JAK2V617F point mutations were simultaneously detected by alleles specific polymerase chain reaction （AS-PCR） and sequencing in 190 MPD patients. The results showed that MPLW515L point mutation was detected in 1 out of 102 essential thrombocythemia （ET） patients （1.0%） and was not detected in 32 polycythemia vera （PV） patients, 13 idiopathic myelofibrosis （IMF） patients, 43 chronic myelogenous leukemia （CML） patients. JAK2V617F point mutation was detected in 20 out of 32 PV patients （62. 5% ）, 43 out of 102 ET patients （42.2%）, 5 out of 13 IMF patients （38.5%）, and was not detected in 43 CML patients. It is concluded that MPLW515L point mutation exists in ET patient, but is not found in PV, IMF and CML. JAK2V617F point mutation exists in PV, ET and IMF, but not in CML.