SOCS基因单核苷酸多态性与典型骨髓增殖性肿瘤的研究  

Study of Single Nucleotide Polymorphism of SOCS Gene in Typical Myeloproliferative Neoplasms

作　　者：秦伟[1] 陈涛[1] 杨建和[1] 章艳[1] 肖容[1] 陆静涛[1] 王婷[1] 周民[1] 何金媛[1] 

机构地区：[1]南京医科大学常州第二医院血液科,江苏常州213000

出　　处：《中国实验血液学杂志》2013年第6期1507-1512,共6页Journal of Experimental Hematology

摘　　要：本研究探讨细胞因子信号转导抑制蛋白(suppressor of cytokine signaling,SOCS)突变和单核苷酸多态性(SNP)对典型骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)的作用及其机制。采用实时定量PCR和直接测序法等方法,在100例MPN患者中分别检测SOCS1、SOCS2、SOCS3基因突变和SNP发生情况。结果表明,SOCS3 15号外显子第63位核苷酸的A→C多态性(SNP库无报道)21例;SOCS3 15号外显子第1779位核苷酸的A→C多态性18例;SOCS3 15号外显子第2249位核苷酸的A→G多态性(SNP库无报道)49例;SOCS3 15号外显子第2366位核苷酸的T→C多态性(SNP库无报道)39例;SOCS2 15号外显子第2016位核苷酸的T→C多态性(SNP库无报道)9例。4组SOCS3 SNP患者平均年龄高于野生型患者,白细胞计数及血小板水平均高于野生型患者,87.65%SNP均存于JAK2突变。结论:SOCS可能是抗癌治疗的一个重要靶点,SOCS SNP可能参与MPN的发病机制。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.

关 键 词：骨髓增殖性疾病 单核苷酸多态性 细胞因子信号转导抑制蛋白 

分 类 号：R551.3[医药卫生—血液循环系统疾病]