Byrne J L, Carter G I, Davies J M, Haynes A P, Russell N H, Cross N C
Department of Haematology, Nottingham City Hospital.
Br J Haematol. 1998 Dec;103(3):791-4. doi: 10.1046/j.1365-2141.1998.01043.x.
A novel variant BCR-ABL mRNA transcript was detected by reverse transcription polymerase chain reaction (RT-PCR) in a patient with Philadelphia positive (Ph+ve) chronic myelogenous leukaemia (CML) who had an aggressive clinical course. Sequence analysis of the amplified cDNA fragment revealed an in-frame fusion with part of BCR exon e2 joined to part of ABL exon 1a. PCR of genomic DNA from this patient demonstrated that this unusual chimaeric mRNA resulted from breakpoints that fell within each of these exons. This is the first report of breakpoints occurring within both ABL and BCR exons and the first fusion to involve ABL exon 1a.
通过逆转录聚合酶链反应（RT-PCR）在一名费城染色体阳性（Ph+ve）慢性粒细胞白血病（CML）患者中检测到一种新型的BCR-ABL mRNA转录本，该患者临床病程呈侵袭性。对扩增的cDNA片段进行序列分析，发现其为框内融合，BCR外显子e2的一部分与ABL外显子1a的一部分相连。对该患者的基因组DNA进行PCR检测表明，这种异常的嵌合mRNA是由位于这些外显子各自内部的断点产生的。这是首次报道ABL和BCR外显子内均出现断点，也是首次涉及ABL外显子1a的融合。
