检测inv(16)(p13q22)和急性髓系白血病患者中MYH11基因重排的简单方法。
Simple method for detection of MYH11 DNA rearrangements in patients with inv(16)(p13q22) and acute myeloid leukemia.
作者信息
van der Reijden B A, Martinet D, Dauwerse J G, Giles R H, Wessels J W, Beverstock G C, Smit B, Mühlematter D, Jotterand Bellomo M, Gabert J, Lafage-Pochitaloff M, Reiffers J, Bilhou-Nabera C, van Ommen G J, Hagemeijer A, Breuning M H
机构信息
Department of Human Genetics, Leiden University, Sylvius Laboratories, The Netherlands.
出版信息
Leukemia. 1996 Sep;10(9):1459-62.
The pericentric inversion on chromosome 16 [inv(16)(p13q22)] and related t(16;16)(p13;q22) are recurrent aberrations associated with acute myeloid leukemia (AML) M4 Eo. Both abberations result in a fusion of the core binding factor beta (CBFB) and smooth muscle myosin heavy chain gene (MYH11). A selected genomic 6.9-kb BamHl probe detects MYH11 DNA rearrangements in 18 of 19 inv(16)/t(16;16) patients tested using HindIII digested DNA. The rearranged fragments were not detectable after remission in two cases tested, while they were present after relapse in one of these two cases tested.
16号染色体的臂间倒位[inv(16)(p13q22)]及相关的t(16;16)(p13;q22)是与急性髓系白血病（AML）M4 Eo相关的复发性畸变。这两种畸变均导致核心结合因子β（CBFB）和平滑肌肌球蛋白重链基因（MYH11）融合。一个选定的6.9kb基因组BamHl探针，在使用HindIII消化的DNA检测的19例inv(16)/t(16;16)患者中的18例中检测到MYH11 DNA重排。在检测的2例病例中，缓解后未检测到重排片段，而在这2例病例中的1例复发后重排片段仍然存在。
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