真性红细胞增多症患者JAK2V617F点突变研究

摘要

Objective To observe the JAK2V617F mutation in polycythemia vera.Methods Genomic DNA were extracted from 20 samples of peripherd blood or bone marrow from patients of PV.Allele specific polymerase chain reaction(AS-PCR)was used to analyze the genomic DNA and JAK2V617F mutation was detected with gel electrophokesis.A retrospective study was performed to explore the correlation between JAK2V617F mutation and hematologic features.Results The JAK2V671F mutation Wag identified in 14 of 20 Polyeythemia vera.The results of PCR products from selected samples were confirmed by sequence analysis.PV patients with JAK2V617F mutation had in creased white blood cell and platelet counts.Conclusion JAK2V617F mutation were in a significant percentage of samples with the polycythemia vera.PV Patients with JAK2V617F mutation had increased white cell and platelet counts.%目的 探讨JAK2V617F点突变在真性红细胞增多症(PV)中的表达.方法 采用等位基因特异性PCR(AS-PCR)的方法检测20例PV患者的JAK2V617F点突变,了解其在PV中的发生情况,探讨JAK2V617F与PV血液学特征的相关性.结果 20例PV患者中有14例存在JAK2V617F点突变(阳性率70.0%),16例正常对照均未检测到JAK2V617F.对部分阳性及阴性标本进行基因测序,证实测序结果与检测结果一致.携带JAK2V617F阳性患者白细胞及血小板升高与JAK2V617F阴性比较具有统计学意义(t=3.81,P＜0.01;t=3.49,P＜0.01).结论 PV患者中JAK2V617F点突变发生率较高,JAK2V617F阳性患者白细胞及血小板高于JAK2V617F阴性,JAK2V617F可以用于临床协助诊断PV.