Bcr-abl阴性骨髓增殖性疾病患者的jak2v617f点突变与socs3基因表达的相关性

Relationship Between Socs3 mRNA Expression and Jak2v617f Point Mutation in Bcr-abl Negative Patients with Myelo-proliferative Disease

本研究探讨bcr-abl阴性MPD患者中的jak2v617f点突变与socs3基因表达的相关性。选择62例bcr-abl阴性MPD患者(PV26例、ET26例、IMF9例、CNL1例)为研究组,CML20例、AL10例、健康志愿者15名为对照组;用AS-PCR检测各组患者jak2v617f的突变情况,PCR产物纯化后测序以发现突变患者;用RT-PCR方法检测各组socs3 mRNA的表达情况;分析bcr-abl阴性MPD患者中jak2v617f点突变阳性组及阴性组之间socs3 mRNA表达的相关性。结果发现,在62例bcr-abl阴性MPD患者中44例jak2v617f突变阳性(PV23例、ET15例、IMF5例、CNL1例),18例突变阴性。对照组均为阴性。44例突变阳性组中39例表达socs3 mRNA。18例突变阴性组中10例表达socs3 mRNA。jak2v617f突变阳性组与阴性组患者的socs3 mRNA表达率有显著性差异(χ2值=8.44,p<0.005);jak2v617f突变阳性组与阴性组两组患者的socs3 mRNA表达水平也有显著性差异(t值2.167,p=0.035)。结论bcr-abl阴性MPD患者中jak2v617f点突变阳性与阴性组socs3 mRNA的表达率及表达水平均有显著性差异。

To investigate the relationship between socs3 mRNA expression and jak2v617f point mutation in bcr-abl negative patients with myelo-proliferative disease （MPD）, 62 bcr-abl negative MPD patients（ 26 cases of PV ,26 cases of ET ,9 cases of IMF, and one case of CNL）were arranged as experiment group, and the others （20 cases of CML, 10 cases of AL and 15 healthy volunteers） were arranged as control group. All the diagnosis had been made according to the 2001 WHO criteria, jak2v617f point mutation was detected by AS-PCR and confirmed by direct sequencing. The expression level of socs3 mRNA was measured by RT-PCR. The association jak2v617f point mutation with socs3 mRNA expression in bcr-abl negative MPD patients was observed and analyzed. The results showed that among 62 bcr-abl negative MPD patients,the somatic jak2v617f point mutation was positive in 44 patients （PV 23, ET 15, IMF 5, CNL 1 ） while negative in the other 18 patients and control group. The expression of socs3 mRNA could be detected in 39 patients from 44 jak2v617f mutation positive patients and in 10 patients from 18 jak2v617f mutation-negative patients. There was a statistically significant difference in socs3 mRNA expression rates between jak2v617f mutation positive and negative group（ x^2 = 8. 44 ,p 〈 0. 005 ）. There was a statistically significant difference in socs3 mRNA expression levels between jak2v617f mutation positive and negative groups（p = 0.035 ）. It is concluded that there is a statistically significant difference in the expression level of socs3 mRNA in the patients between jak2v617f mutation positive group and negative group.