Nishigaki H, Inazawa J, Misawa S, Nishida K, Okuda T, Horiike S, Tsuda S, Taniwaki M, Abe T
Third Department of Internal Medicine, Kyoto Prefectural University of Medicine, Japan.
Am J Hematol. 1989 Nov;32(3):194-9. doi: 10.1002/ajh.2830320307.
We analyzed, by Southern blot hybridization, the site of breakpoint within the breakpoint cluster region (bcr) in six patients with a complex Philadelphia chromosome (Ph) translocation and in 23 unselected patients with a standard Ph. The breakpoint was found within the 5.8 kb bcr in all 29 patients. When the bcr was subdivided into four parts, fragments I-IV, based on the restriction enzyme sites, among the six patients with a complex Ph, two had a breakpoint at fragment I, three at fragment II, and one at fragment III. This distribution of breakpoints in patients with a complex Ph did not differ significantly from that in patients with a standard Ph. A deletion of an allele within the bcr was found in three patients (50%) with a complex Ph and in three (13%) with a standard Ph. The internal bcr deletion may be more common in patients with a complex Ph.
我们通过Southern印迹杂交分析了6例具有复杂费城染色体（Ph）易位的患者以及23例未经选择的具有标准Ph的患者中，断点簇区域（bcr）内的断点位置。在所有29例患者中，断点均位于5.8 kb的bcr内。根据限制性酶切位点将bcr细分为四个部分，片段I-IV，在6例具有复杂Ph的患者中，2例在片段I处有断点，3例在片段II处，1例在片段III处。复杂Ph患者的断点分布与标准Ph患者的断点分布无显著差异。在3例（50%）具有复杂Ph的患者和3例（13%）具有标准Ph的患者中发现了bcr内一个等位基因的缺失。bcr内部缺失在复杂Ph患者中可能更常见。
