Cherif D, Bernard O, Paulien S, James M R, Le Paslier D, Berger R
Unité INSERM U 301, Paris, France.
Leukemia. 1994 Apr;8(4):578-86.
Seven patients with acute leukemia and translocation involving band 11q23 have been studied by fluorescence in situ hybridization (FISH) using YAC probes spanning the HRX gene. While hybridization signal was split by translocation between the rearranged 11 and the partner chromosomes in five patients, only one signal on the derivative 11 was observed in two patients, one with t(9;11)(p21-22;q23) and the other with t(6;11)(q27;q23). Having shown that HRX was rearranged in these two cases, the distal part of 11q23 was investigated using other YACs containing markers for this region. This showed that a 600-700 kb deletion, distal to the HRX breakpoint cluster region, had occurred in the two cases. This study supports the notion that the 5' end of HRX is the important part in the chimeric genes resulting from 11q23 translocations and suggests that deletions of the 3' part are not uncommon.
利用跨越HRX基因的酵母人工染色体(YAC)探针,通过荧光原位杂交(FISH)对7例患有急性白血病且涉及11q23带易位的患者进行了研究。在5例患者中,杂交信号因易位而在重排的11号染色体与伙伴染色体之间分裂,但在2例患者中,仅在衍生的11号染色体上观察到一个信号,其中1例为t(9;11)(p21 - 22;q23),另1例为t(6;11)(q27;q23)。在证实这2例中HRX发生重排后,使用包含该区域标记的其他YAC对11q23的远端部分进行了研究。结果显示,在这2例中,HRX断点簇区域远端发生了600 - 700 kb的缺失。本研究支持以下观点:HRX的5'端是11q23易位产生的嵌合基因中的重要部分,并表明3'部分的缺失并不罕见。