van der Reijden B A, Lombardo M, Dauwerse H G, Giles R H, Mühlematter D, Bellomo M J, Wessels H W, Beverstock G C, van Ommen G J, Hagemeijer A
Department of Human Genetics, Leiden University, Sylvius Laboratories, The Netherlands.
Blood. 1995 Jul 1;86(1):277-82.
As acute nonlymphocytic leukemia (ANLL) with inv(16) (p13q22) or t(16;16)(p13;q22) has been shown to result from the fusion of transcription factor subunit core binding factor (CBFB) to a myosin heavy chain (MYH11), we sought to design methods to detect this rearrangement using reverse transcriptase-polymerase chain reaction (RT-PCR). In all of 27 inv(16)(p13q22) and four t(16;16)(p13;q22) cases tested, a chimeric CBFB-MYH11 transcript coding for an in-frame fusion protein was detected. In a more extensive RT-PCR analysis with different primer pairs, we detected a second new chimeric CBFB-MYH11 transcript in 10 of 11 patients tested. The CBFB-MYH11 reading frame of the second transcript was maintained in one patient but not in the others. We show that the different CBFB-MYH11 transcripts in one patient arise from alternative splicing. Translation of the transcript in which the CBFB-MYH11 reading frame is not maintained leads to a slightly truncated CBFB protein.
由于已证实伴有inv(16)(p13q22)或t(16;16)(p13;q22)的急性非淋巴细胞白血病（ANLL）是由转录因子亚基核心结合因子（CBFB）与肌球蛋白重链（MYH11）融合所致，我们试图设计方法利用逆转录聚合酶链反应（RT-PCR）来检测这种重排。在检测的所有27例inv(16)(p13q22)和4例t(16;16)(p13;q22)病例中，均检测到编码框内融合蛋白的嵌合CBFB-MYH11转录本。在使用不同引物对进行的更广泛的RT-PCR分析中，我们在11例检测患者中的10例中检测到了第二种新的嵌合CBFB-MYH11转录本。第二种转录本的CBFB-MYH11读码框在1例患者中得以保留，而在其他患者中则未保留。我们发现，一名患者体内不同的CBFB-MYH11转录本是由可变剪接产生的。CBFB-MYH11读码框未保留的转录本翻译会产生一种略有截短的CBFB蛋白。
