Ohyashiki K, Ohyashiki J H, Kinniburgh A J, Rowe J, Miller K B, Raza A, Preisler H D, Sandberg A A
Cancer Genet Cytogenet. 1987 May;26(1):105-15. doi: 10.1016/0165-4608(87)90138-5.
A probe derived from the 3' end of the CML breakpoint cluster region (bcr) was localized in chronic myelocytic leukemia (CML) cases with complex Philadelphia translocations, [t(8;9;22)(q13;q34;q11) and t(12;9;22)(p11;q34;q11)], and with "masked" Ph chromosomes, [t(9;5;22)(q34;q31;q11) and t(9;22)(q22;q34)], by a chromosomal in situ hybridization technique. In some cases, the 3' bcr rearrangements in the DNA were examined with Southern blot analysis. In each case, a significant accumulation of grains hybridized to the 3' bcr probe was observed at chromosomal segments derived from the long arm of a chromosome #22. In some cases, the accumulation of grains was detected on both translocated segments derived from the 22q and terminal portions of Ph chromosomes; Southern blot analysis revealed that breakage in chromosome #22 occurred within DNA sequences of the 3' bcr probe involved in the Ph translocations. In a CML cell line, K562, no accumulation of grains hybridized to the 3' bcr probe was detected, except at 22q11 of the normal chromosomes #22; Southern blot analysis of this cell line revealed that the 3' bcr sequences were missing. Thus, the data presented here suggest a complexity in the formation of "masked" Ph chromosomes.
一个源自慢性粒细胞白血病（CML）断点簇区域（bcr）3'端的探针，通过染色体原位杂交技术，定位在伴有复杂费城染色体易位[t(8;9;22)(q13;q34;q11)和t(12;9;22)(p11;q34;q11)]以及“隐匿”费城染色体[t(9;5;22)(q34;q31;q11)和t(9;22)(q22;q34)]的慢性粒细胞白血病病例中。在某些情况下，用Southern印迹分析法检测DNA中的3' bcr重排。在每一病例中，在源自22号染色体长臂的染色体片段上，观察到与3' bcr探针杂交的颗粒显著积聚。在某些情况下，在源自22q的易位片段和费城染色体的末端部分均检测到颗粒积聚；Southern印迹分析显示，22号染色体的断裂发生在参与费城染色体易位的3' bcr探针的DNA序列内。在慢性粒细胞白血病细胞系K562中，除了在正常22号染色体的22q11处，未检测到与3' bcr探针杂交的颗粒积聚；对该细胞系的Southern印迹分析显示3' bcr序列缺失。因此，本文提供的数据提示“隐匿”费城染色体形成过程的复杂性。
