Hirosawa S, Aoki N, Matsushime H, Shibuya M
First Department of Medicine, Tokyo Medical and Dental University, Japan.
Am J Hematol. 1988 May;28(1):33-6. doi: 10.1002/ajh.2830280107.
Most patients with chronic myelogenous leukemia (CML) have Philadelphia (Ph) chromosome. Breakpoints on chromosome 22 in CML occur in a small region designated as the breakpoint cluster region (bcr). More than 90 percent of CML patients have breakpoints in the bcr; the remaining patients had no detectable rearrangement. In our study, a commercially available 1.2 kb HindIII-BglII (1.2 HBg) bcr probe was used to locate breakpoints in the bcr, which were found in 22 of 24 patients. Furthermore, using a probe upstream from the 1.2 HBg probe, rearranged bands were clearly detected in the two patients in whom no extra bands had been found with the 1.2 HBg probe. These results strongly suggest that these two patients carry a deletion at the acr-abl recombination point encompassing the area of the 1.2 HBg probe. Therefore, in our series, all CML patients eventually had breakpoints in the bcr, and the involvement of rearrangement was demonstrated to be highly specific for CML. Our data indicate that hybridization of CML cellular DNA with several bcr probes is important in examining accurately the frequency of bcr-abl rearrangements in CML, as some cases contain a deletion within the region.
大多数慢性粒细胞白血病（CML）患者有费城（Ph）染色体。CML中22号染色体的断点出现在一个被指定为断点簇区域（bcr）的小区域内。超过90%的CML患者在bcr中有断点；其余患者未检测到重排。在我们的研究中，使用一种市售的1.2 kb HindIII - BglII（1.2 HBg）bcr探针来定位bcr中的断点，在24例患者中的22例中发现了断点。此外，使用1.2 HBg探针上游的一个探针，在使用1.2 HBg探针未发现额外条带的两名患者中清楚地检测到了重排条带。这些结果强烈表明，这两名患者在acr - abl重组点处存在缺失，该缺失涵盖了1.2 HBg探针的区域。因此，在我们的系列研究中，所有CML患者最终在bcr中都有断点，并且重排的参与被证明对CML具有高度特异性。我们的数据表明，CML细胞DNA与几种bcr探针的杂交对于准确检测CML中bcr - abl重排的频率很重要，因为一些病例在该区域内存在缺失。
