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为研究JAK2V617F在原发性血小板增多症(ET)患者中的发生率和突变类型,定量分析突变转录本水平并初步探讨其临床意义,采用ARMS(amplification-refractory mutation sequencing)PCR法检测JAK2V617F突变的发生率及其突变类型,采用毛细管电泳法定量分析JAK2V617F突变转录本水平。结果显示:98例ET患者中59例JAK2V617F为阳性,其中纯合突变18例。纯合突变及杂合突变患者的平均年龄均较野生型为高(p值均(0.05);18例纯合突变患者的白细胞计数高于41例杂合突变者,且二者均高于野生型(p值均(0.05)。毛细管电泳定量分析显示,纯合突变患者JAK2V617F突变转录本水平为(89.9±6.7)%,高于杂合突变患者的(57.1±6.7)%(p(0.05);年龄小于60岁患者的JAK2V617F突变转录本水平为(62.3±16.5)%,低于年龄大于60岁患者的JAK2V617F突变转录本水平为(72.4±15.8)%(p(0.05)。JAK2V617F阳性组中血栓的发生率高于阴性组,其中纯合突变者高于杂合突变者,发生血栓者的JAK2V617FF转录本水平高于无血栓者(p值均(0.05)。结论:JAK2V617F阳性与阴性ET患者有着不同的临床特征,分析其突变类型及检测其转录本水平对明确疾病状态、观察疾病进展及指导治疗有重要意义。
In order to study the incidence and types of JAK2V617F in patients with essential thrombocythemia (ET), we quantitatively analyzed the level of the mutant transcripts and preliminary clinical significance. The detection of JAK2V617F mutation by amplification-refractory mutation sequencing (ARMS) Incidence and mutation types, quantitative analysis of JAK2V617F mutation transcript level by capillary electrophoresis. The results showed that 59 cases of JAK2V617F were positive in 98 cases of ET patients, including 18 cases of homozygous mutation. The mean age of patients with homozygous and heterozygous mutations was significantly higher than that of wild type (p = 0.05). The 18 patients with homozygous mutation had higher leukocyte counts than those with 41 heterozygous mutations, both of which were higher than wild (P = 0.05) .Capillary electrophoresis quantitative analysis showed that the mutation level of JAK2V617F mutation was (89.9 ± 6.7)% in homozygous mutation patients and higher than that in heterozygous mutation patients (57.1 ± 6.7%) (p (0.05) ; The JAK2V617F mutation transcript level was (62.3 ± 16.5)% in patients younger than 60 years old and lower than that in patients older than 60 years old (72.4 ± 15.8%) (p (0.05)). In JAK2V617F positive group The incidence of thrombus was higher than that of the negative group, of which homozygous mutation was higher than that of the heterozygous mutation, and the level of JAK2V617FF transcripts in the patients with thrombosis was higher than those without thrombosis (p = 0.05) .Conclusion: JAK2V617F positive and negative ET patients Have different clinical features, analyze the type of mutation and detect the level of its transcripts for the clear disease status, observation of disease progression and guiding treatment is of great significance.