骨髓增生异常综合征剪接体突变的研究进展
发布时间：2018-11-14 11:44
【摘要】：研究发现剪接体突变在骨髓增生异常综合征(myelodysplastic syndrome,MDS)疾病的发生发展中发挥重要作用,其突变基因包括SF3B1、U2AF1(U2AF35)、SRSF2、ZRSR2、PRPF40B、SF1、SF3A1和U2AF2等,突变基因(45%~85%)发生在mRNA剪接过程中的3'剪接位点,主要表现为杂合性错义突变。了解RNA剪接对MDS的靶向治疗及预后具有指导作用。本文就剪接体相关突变基因在MDS中的致病机制、靶向治疗及临床预后等进行综述。
[Abstract]:Splicing mutations play an important role in the development of myelodysplastic syndromes (myelodysplastic syndrome,MDS), including SF3B1,U2AF1 (U2AF35), SRSF2,ZRSR2,PRPF40B,SF1,SF3A1 and U2AF2. The mutation gene (45% or 85%) occurs at the 3 'splicing site in the process of mRNA splicing, which is mainly characterized by heterozygosity missense mutation. Understanding RNA splicing is helpful to target therapy and prognosis of MDS. This article reviews the pathogenesis, targeted therapy and clinical prognosis of splicing associated mutant genes in MDS.
【作者单位】： 南华大学附属郴州第一人民医院检验科;
【分类号】：R440;R551.3
，
本文编号：2331060
[Abstract]:Splicing mutations play an important role in the development of myelodysplastic syndromes (myelodysplastic syndrome,MDS), including SF3B1,U2AF1 (U2AF35), SRSF2,ZRSR2,PRPF40B,SF1,SF3A1 and U2AF2. The mutation gene (45% or 85%) occurs at the 3 'splicing site in the process of mRNA splicing, which is mainly characterized by heterozygosity missense mutation. Understanding RNA splicing is helpful to target therapy and prognosis of MDS. This article reviews the pathogenesis, targeted therapy and clinical prognosis of splicing associated mutant genes in MDS.
【作者单位】： 南华大学附属郴州第一人民医院检验科;
【分类号】：R440;R551.3
，
本文编号：2331060
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