粘粒
生物
16号染色体
髓系白血病
荧光原位杂交
染色体反转
融合基因
遗传学
基因座(遗传学)
融合转录本
三体
分子生物学
染色体
基因
癌症研究
核型
作者
H Pirc-Danoewinata,Hans G. Dauwerse,Margit König,Ilse Chudoba,Margit Mitterbauer,Ulrich Jaeger,Martijn H. Breuning,Oskar A. Haas
标识
DOI:10.1002/1098-2264(2000)9999:9999<::aid-gcc1020>3.0.co;2-0
摘要
We present a unique case of acute myeloid leukemia M4Eo (AML-M4Eo) with a CBFB/MYH11 fusion transcript and a trisomy 22, but in whom cytogenetic analyses did not disclose an inv(16). Fluorescence in situ hybridization (FISH) analysis with chromosome arm-specific painting probes as well as with the c40 and c36 cosmids also revealed no evidence for an inv(16), whereas the application of locus-specific probes confirmed the presence of a masked inv(16). The results of our comprehensive FISH investigations indicate that the events leading to this masked inv(16) were complex and concurred with deletions on both the long and short arms. The most likely explanation for the formation of the relevant CBFB/MYH11 fusion is an insertion of parts of the MYH11 into the CBFB gene, although it is also possible that it was formed by a double inversion. © 2000 Wiley-Liss, Inc.
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