SRSF2基因突变与髓系肿瘤  

SRSF2 gene mutation and myeloid malignancies

作　　者：苗宁宁[1] 孟凡凯[1] 曾雯[1] 秦爽[1] 罗丹[1] 孙汉英[1] 

机构地区：[1]华中科技大学同济医学院同济医院血液内科,湖北武汉430030

出　　处：《中国病理生理杂志》2014年第12期2289-2293,共5页Chinese Journal of Pathophysiology

基　　金：湖北省自然科学基金资助项目(No.2013CFB098)

摘　　要：近年随着新一代基因组测序技术的开展,发现剪接体相关基因突变在髓系肿瘤中检出率较高,并且可能与疾病的发生发展密切相关。研究这些基因突变前后功能的改变不仅有助于明确疾病的发病机制,而且对于疾病的诊断、治疗及预后判断也具有重要意义。富含丝氨酸/精氨酸剪接因子2（serine/arginine-rich splicing factor 2,SRSF2）基因是常见剪接体基因突变之一,The splicing factors were characterized for their crucial roles in pre-mRNA splicing of eukaryons. SRSF2 is arr, ember of the SR protein family which is one of the most common splicing factors, and it is believed to be a key element in pre-mRNA splicing, mRNA transcription, regulation of the DNA stability and cell proliferation. SRSF2 gene mutation is detected frequently in myeloid malignancies （like MDS and CMML） and may be associated with the phenotype and prognosis of these malignancies. The paper makes a review for the latest research progression on SRSF2 gene mutation and its relationship with myeloid malignancies.

关 键 词：富含丝氨酸/精氨酸剪接因子2 骨髓增生异常综合征 慢性粒单核细胞白血病 原发性骨髓纤维化 

分 类 号：R551.3[医药卫生—血液循环系统疾病]