第二代测序技术及其在急性髓系白血病和骨髓增生异常综合征中的运用

Next-Generation Sequencing and Its Application in Acute Myeloid Leukemia and Myelodysplastic Syndrome ——Review

第2代测序技术(next-generation sequencing,NGS)悄然取代经典的Sanger测序技术,成为科研人员发掘人类肿瘤疾病遗传学秘密的最实用、最可靠的方法。随着技术的不断更新及完善,进行全基因组测序不再遥不可及。近年来,部分科学家将此项技术运用于血液系统恶性肿瘤的研究,积极推动急性髓系白血病、骨髓增生异常综合征的全基因组测序的进程,期待从源头上找出部分血液系统恶性肿瘤的致病机理。本文就第2代测序技术及全基因组测序、外显子基因组测序和转录基因组测序在急性髓系白血病、骨髓增生异常综合征两种疾病中的运用进行综述。

The next-generation sequencing（NGS）,as the most practical and reliable method,has replaced the classical Sanger sequencing to help scientists to discover the genetics secrets of human tumor diseases.With the technique development,the whole genome sequencing will be no longer out of reach.Recently,some scientists used the NGS in the research of hematological malignancies and pushed the progress of the whole genome sequencing in acute myeloid leukemia（AML） and myelodysplastic syndrome（MDS） actively in order to find out the pathogenesis of some hematological malignancies.The NGS and the application of the whole genome sequencing,the exome sequencing,the transcrpitome sequencing in AML and MDS are reviewed in this article.