真性红细胞增多症和原发性血小板增多症JAK2 V617F基因纯合突变克隆分析

首都医科大学学报 ›› 2008, Vol. 29 ›› Issue (2): 113-117.

真性红细胞增多症和原发性血小板增多症JAK2 V617F基因纯合突变克隆分析

刘红星¹, 童春荣¹, 蔡鹏¹, 顾江英¹, 林跃辉¹, 张英², 滕文¹, 王赫¹, 朱平²

1. 北京市道培医院特检中心;2. 北京大学第一医院血液研究室

收稿日期:2008-01-18 修回日期:1900-01-01 出版日期:2008-04-24 发布日期:2008-04-24
通讯作者: 朱平

A Higher JAK2 V617F Homozygous Mutated Clone is Observed in Polycythemia Vera than in Primary Thrombocytosis

Liu Hongxing¹, Tong Chunrong¹, Cai Peng¹, Gu Jiangying¹, Lin Yuehui¹, Zhang Ying², Teng Wen¹, Wang He¹, Zhu Ping²

1. Molecular Diagnosis Center, Beijing Daopei Hospital;2. Hematology Laboratory, First Hospital, Peking University

Received:2008-01-18 Revised:1900-01-01 Online:2008-04-24 Published:2008-04-24

摘要/Abstract

摘要： 目的定量检测并分析JAK2 V617F突变等位基因在真性红细胞增多症(polycythemia vera,PV)和原发性血小板增多症(essential thrombocythemia,ET)中的分布情况.方法分别建立位点特异性PCR和荧光实时定量PCR检测JAK2 V617F突变的方法,对40例PV、31例ET标本和对照标本(急性白血病和正常人标本各40例)进行检测,统计分析2种方法的突变检出率、突变等位基因比例在2种疾病中的差异及其与年龄、性别的相关性.结果位点特异性PCR法和荧光实时定量PCR法在PV患者中检测阳性率分别为87.5%和92.5%,在ET患者中检测阳性率分别为51.6%和64.5%,在急性白血病和正常对照标本中均未检测到突变.突变阳性的PV患者突变型等位基因比例为0.436±0.261,其中携带纯合突变者占PV患者总数的40.54%.突变阳性的ET患者中突变型等位基因比例为0.216±0.207,其中携带纯合突变者占ET患者总数的10%.统计分析表明在PV和ET患者中突变型等位基因比例和患者性别无关(P值分别为0.342和0.154).突变阳性的PV和ET患者中突变等位基因比例和年龄无相关性(PV:r=0.161,P=0.342;ET:r=0.331,P=0.154).结论 PV患者较ET患者携带更多突变的等位基因,PV患者携带纯合突变的比例是ET患者的4倍.采用较高灵敏度的检测方法有助于提高JAK2 V617F突变的检出率.

关键词: JAK2, V617F突变, 光定量PCR, 真性红细胞增多症, 原发性血小板增多症

Abstract: Objective To analyze the mutation allele ratio in polycythemia vera(PV) and essential thrombocythemia(ET) samples. Methods SB-ASA and real-time PCR assays were developed and performed for JAK2 V617F detection on 40 PV samples, 31 ET samples and control samples(40 acute leukemias and 40 normal samples). Difference between detection rates of the two assays was analyzed. Ratio between mutation alleles in PV and ET samples and their relevance with biological characters were also analyzed. Results More mutation positive samples were detected with real-time PCR than with SB-ASA assay. The detection rates in PV and ET were 87.5% and 51.6% with SB-ASA PCR but 92.5% and 64.5% with real-time PCR respectively. No mutation was detected in control samples. The mutation allele ratio was 0.436±0.261 in PV and 0.216±0.207 in ET respectively. Percent age of homozygous mutation in PV was 40.54% and in ET was 10%. Statistical analysis showed no relevance between mutation allele ratio and sex and age. Conclusion The JAK2 V617F mutated allele ratio is higher in PV than in ET; The ratio of homozygous mutated clone in PV is 4 times of that in ET. The pathogenesis of PV or ET has relationship with the mutation allele ratio of JAK2.

Key words: JAK 2V617F mutation, real-time PCR, polycythemia vera, essential thrombocythemia

中图分类号:

刘红星;童春荣;蔡鹏;顾江英;林跃辉;张英;滕文;王赫;朱平. 真性红细胞增多症和原发性血小板增多症JAK2 V617F基因纯合突变克隆分析[J]. 首都医科大学学报, 2008, 29(2): 113-117.

Liu Hongxing;Tong Chunrong;Cai Peng;Gu Jiangying;Lin Yuehui;Zhang Ying;Teng Wen;Wang He;Zhu Ping. A Higher JAK2 V617F Homozygous Mutated Clone is Observed in Polycythemia Vera than in Primary Thrombocytosis[J]. Journal of Capital Medical University, 2008, 29(2): 113-117.

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