Qin Wei, Chen Tao, Yang Jian-He, Zhang Yan, Xiao Rong, Lu Jing-Tao, Wang Ting, Zhou Min, He Jin-Yuan
Department of Hematology, The Second Hospital of Changzhou, Nanjing Medical University, Changzhou 213000, China.
Department of Hematology, The Second Hospital of Changzhou, Nanjing Medical University, Changzhou 213000, China. E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013 Dec;21(6):1507-12. doi: 10.7534/j.issn.1009-2137.2013.06.026.
This study was purposed to investigate the effect of mutation and single nucleotide polymorphism (SNP) of suppressor of cytokine signaling (SOCS) on the typical myeloproliferative neoplasms (MPN) and its mechanism. The mutation and SNP of SOCS1, SOCS2, SOCS3 genes in 100 MPN patients were detected by RT-PCR and direct sequencing. The results showed that among 100 cases there were 21 cases with A→C polymorphism in the 63th site nucleotide of the 15 SOCS3 exon (SNP library no reported), 18 cases with A→C polymorphism in the 1779th site nucleotide of the 15 SOCS3 exon, 49 cases with A→G polymorphism in the 2249th site nucleotide of the 15 SOCS3 exon (SNP library no reported), 39 cases with T→C polymorphism in the 2366th site nucleotide of the 15 SOCS3 exon (SNP library no reported), 9 cases with T→C polymorphism in the exon of 15 SOCS2 gene (SNP library no reported). SOCS3 SNP was found in patients with significantly advanced age at diagnosis, the leukocyte count and platelet level were higher than those in patients with wild type, JAK2V617 mutations was found in 87.65% SOCS3 SNP. It is concluded that the SOCS may be an important target for anticancer therapy, the single nucleotide polymorphism of SOCS may involve to pathogenesis of MPN.
本研究旨在探讨细胞因子信号转导抑制因子（SOCS）的突变和单核苷酸多态性（SNP）对典型骨髓增殖性肿瘤（MPN）的影响及其机制。采用逆转录聚合酶链反应（RT-PCR）和直接测序法检测100例MPN患者SOCS1、SOCS2、SOCS3基因的突变和SNP。结果显示，100例患者中，15号SOCS3外显子第63位核苷酸存在A→C多态性21例（SNP文库未报道），15号SOCS3外显子第1779位核苷酸存在A→C多态性18例，15号SOCS3外显子第2249位核苷酸存在A→G多态性49例（SNP文库未报道），15号SOCS3外显子第2366位核苷酸存在T→C多态性39例（SNP文库未报道），15号SOCS2基因外显子存在T→C多态性9例（SNP文库未报道）。诊断时年龄显著偏大的患者中发现SOCS3 SNP，白细胞计数和血小板水平高于野生型患者，87.65%的SOCS3 SNP患者存在JAK2V617突变。结论：SOCS可能是抗癌治疗的重要靶点，SOCS的单核苷酸多态性可能参与MPN的发病机制。
