Dong S, Geng J P, Tong J H, Wu Y, Cai J R, Sun G L, Chen S R, Wang Z Y, Larsen C J, Berger R
Laboratory of Molecular Biology, Shanghai Rui-Jin Hospital, Shanghai Second Medical University, China.
Genes Chromosomes Cancer. 1993 Mar;6(3):133-9. doi: 10.1002/gcc.2870060302.
DNA studies of the translocation t(15;17) in acute promyelocytic leukemia (APL) have shown that the retinoic acid receptor alpha (RARA) gene on chromosome 17 is juxtaposed to the promyelocytic leukemia (PML) gene on chromosome 15. The PML breakpoints have been mapped to 3 clusters: bcr1, bcr2, and bcr3. We have examined the PML breakpoint distribution in a series of 33 Chinese patients with APL. Twenty-two patients fell within bcr1, 2 within bcr2, and 9 within bcr3. The primary structure of the reciprocal chromosome translocation joints of one patient and that of their normal counterparts have been determined and compared to those of 2 previously reported cases. These studies revealed possible topoisomerase II cleavage sites close to the breakpoints and suggested implications of DNA attachment sites to nuclear matrix. We propose that these features are relevant to the process of illegitimate recombination generating the translocation.
对急性早幼粒细胞白血病（APL）中15号与17号染色体易位t(15;17)的DNA研究表明，17号染色体上的维甲酸受体α（RARA）基因与15号染色体上的早幼粒细胞白血病（PML）基因并列。PML断点已被定位到3个簇：bcr1、bcr2和bcr3。我们检测了33例中国APL患者的PML断点分布。22例患者属于bcr1，2例属于bcr2，9例属于bcr3。已确定并比较了1例患者及其正常对应者的相互染色体易位接头的一级结构与之前报道的2例病例的结构。这些研究揭示了靠近断点处可能存在的拓扑异构酶II切割位点，并提示了DNA附着位点与核基质的关系。我们认为这些特征与产生易位的异常重组过程相关。
