【摘要】：研究發(fā)現(xiàn)剪接體突變?cè)诠撬柙錾惓＞C合征(myelodysplastic syndrome,MDS)疾病的發(fā)生發(fā)展中發(fā)揮重要作用,其突變基因包括SF3B1、U2AF1(U2AF35)、SRSF2、ZRSR2、PRPF40B、SF1、SF3A1和U2AF2等,突變基因(45%~85%)發(fā)生在mRNA剪接過程中的3'剪接位點(diǎn),主要表現(xiàn)為雜合性錯(cuò)義突變。了解RNA剪接對(duì)MDS的靶向治療及預(yù)后具有指導(dǎo)作用。本文就剪接體相關(guān)突變基因在MDS中的致病機(jī)制、靶向治療及臨床預(yù)后等進(jìn)行綜述。
[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.
【作者單位】： 南華大學(xué)附屬郴州第一人民醫(yī)院檢驗(yàn)科;
【分類號(hào)】：R440;R551.3
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本文編號(hào)：2331060