98例原发性血小板增多症Jak2基因突变的定量分析及其临床意义  

Quantitative Analysis for Jak2 Mutation in 98 Patients with Essential Thrombocythemia and Its Clinical Significance

作　　者：晁红颖[1] 沈益民[1] 张日[1] 冯宇峰[1] 岑建农[1] 姚利[1] 沈宏杰[1] 朱子玲[1] 薛永权[1] 

机构地区：[1]苏州大学第一人民医院,江苏省血液病研究所,血栓与止血国家重点实验室,江苏苏州215006

出　　处：《中国实验血液学杂志》2009年第3期665-669,共5页Journal of Experimental Hematology

基　　金：江苏省卫生厅"科教兴卫工程"临床医学中心开放课题基金;编号WKF07006

摘　　要：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。The objective of this study was to identify the frequency and types of JAK2V617F mutation in chinese patients with essential thrombocythemia （ET）, to quantitatively detect the level of mutation transcripts and to investigate its clinical significance. The frequence and types of JAK2V617F mutation were detected by amplification-refractory mutation sequencing polymerase chain reaction （ARMS-PCR）, the transcript level of JAK2V617F mutation was determined by using capillary electrophoresis. The results indicated that the JAK2V617F mutation was detected in 59 out of 98 patient with ET, 18 of whom were homozygous mutation. The mean age of patients with homozygous and heterozygous mutation was higher than that of patients with wild type mutation （p 〈 0.05）. The quantitative assay using capillary electrophoresis showed that the transcript level of JAK2V617F mutation in patients with homozygous mutation was （89.9 ± 6. 7 ） %, which was higher than that in patients with heterozygous mutation （57.1 ± 6.7 ） % （p 〈 0.05 ） ; the transcript level of JAK2V617F mutation in patients with age 〈60 years was （62.3 ± 16.5 ） %, which was lower than that in patients with age 〉60 years （72.4% ± 15.8）% （p 〈 0.05）. The rate of thrombotic complications in patients with JAK2V617F-positive was higher than that in patients with JAK2V617F-negative in which the rate of thrombotic complication in patients with homozygous mutation was higher than that in patients with heterozygous mutation （p 〈 0.05 ）. Compared with patients without thrombotic events, there were higher level of transcripts of JAK2V617F mutation in patients with thrombotic events. It is concluded that the JAK2V617F positive and negative patients with ET display the different clinical features, therefore, the analysis of mutation types and detection of transcript levels not only helps to identi- fy the disease status and progression, but also guides the treatment of ET patients.

关 键 词：原发性血小板增多症 JAK2V617F ARMS—PCR 毛细管电泳 

分 类 号：R558.3[医药卫生—血液循环系统疾病]