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涉及染色体11q23的异常是造血系统肿瘤的常见改变,该异常导致位于11q23处的混合谱系白血病(MLL)基因发生重排,与多种伙伴基因发生融合。MLL基因编码蛋白主要包括3个功能区域:转录抑制区、转录激活区和DNA结合区,它起着转录因子功能,在人体发育及细胞分化过程中,起着重要调控作用。MLL基因重排包括易位、部分串联重复、缺失、片段扩增等,MLL易位可产生许多不同类型的融合基因,最终诱导白血病发生。MLL重排的白血病有特异生物学特性,已成为白血病中的一个特殊亚型。
Abnormalities involving chromosome 11q23 are common alterations in hematopoietic tumors that result in the rearrangement of the mixed lineage leukemia (MLL) gene located at 11q23 and fusion with multiple partner genes. MLL gene encodes proteins mainly include three functional areas: transcriptional repression zone, transcriptional activation zone and DNA binding zone, which plays a transcription factor function in human development and cell differentiation process, plays an important regulatory role. MLL gene rearrangements include translocation, partial tandem duplication, deletion, fragment amplification, etc. MLL translocation can generate many different types of fusion genes and finally induce leukemia. MLL rearranged leukemia has specific biological characteristics, has become a leukemia in a special subtype.