Numata S, Kato K, Horibe K
Department of Pediatrics, Nagoya University School of Medicine, Japan.
Leukemia. 1993 Sep;7(9):1441-4.
About 25% of the children with pre-B cell acute lymphoblastic leukemia (ALL) have a chromosomal translocation of t(1;19)(q23;p13). This translocation juxtaposes the E2A gene on chromosome 19 to the PBX1 gene on chromosome 1, leading to production of a fusion transcript. The fusion sites of the E2A and PBX1 coding sequence have been identical among all cases of t(1;19) ALL studied so far. Here we described a new fusion site of the E2A and PBX1 genes, which was detected in the leukemic blasts of a child with t(1;19) pre-B ALL using the reverse transcriptase polymerase chain reaction and direct sequencing. The fusion site was located just upstream of the DNA binding domain of the E2A gene, and was close to a homeodomain of the PBX1 gene.
约25%的前B细胞急性淋巴细胞白血病（ALL）患儿存在t(1;19)(q23;p13)染色体易位。这种易位使19号染色体上的E2A基因与1号染色体上的PBX1基因并列，导致产生融合转录本。在迄今为止研究的所有t(1;19) ALL病例中，E2A和PBX1编码序列的融合位点都是相同的。在此，我们描述了一个新的E2A和PBX1基因融合位点，该位点是在一名患有t(1;19)前B ALL患儿的白血病原始细胞中，通过逆转录聚合酶链反应和直接测序检测到的。该融合位点位于E2A基因DNA结合结构域的上游，且靠近PBX1基因的一个同源结构域。
