Molecular Diagnosis of Human Leukemias

t(3; 21)（q26; q22）易位被认为可引发慢性髓细胞白血病（CML）的母细胞危象。这种相互易位产生AML1/EVI-1嵌合基因，其转录为融合mrna。180kd的AML1/EVI-1融合蛋白含有AML1的氨基末端一半，包括一个小同源结构域，该结构域融合到整个锌指EVI-1蛋白上。AML1/EVI-1融合转录物在所有三例携带t（3; 21）的白血病中是一致的。与AML1和EVI-1转录起始序列互补的合成反义寡核苷酸特异性抑制t（3; 21）易位白血病细胞的生长。这些发现有力地表明，t（3; 21）易位导致了一类新的嵌合转录因子的形成，这种嵌合转录因子可能通过干扰细胞生长和分化而促进白血病的进展。

The t(3 ; 21)(q26 ; q22) translocation is thought to trigger blastic crisis in chronic myelocytic leukemia (CML). This reciprocal translocation generates an AML1/EVI-1 chimeric gene which is transcribed as fusion mRNAs. The 180 kD AML1/EVI-1 fusion protein contains an amino-terminal half of AML1 including a runt homology domain which is fused to the entire of zinc finger EVI-1 protein. The AML1/EVI-1 fusion transcript is consistent among all three cases of the t(3 ; 21)-carrying leukemia examined. Synthetic antisense oligonucleotides complementary to the sequences including the transcriptional initiation sequences of authentic AML1 and EVI-1 specifically suppress growth of leukemia cells with the t(3 ; 21) translocation. These findings strongly suggest that the t(3 ; 21) translocation results in the formation of a new class of a chimeric transcription factor which could contribute to leukemic progression through interference with cell growth and differentiation.