Garcia I S, Kaneko Y, Gonzalez-Sarmiento R, Campbell K, White L, Boehm T, Rabbitts T H
Laboratory of Molecular Biology, Cambridge, UK.
Oncogene. 1991 Apr;6(4):577-82.
A frequent site of translocation damage in human T-ALL has been localized to a specific region of chromosome band 11p13. Five new T-ALL cases are described which break in the major T-ALLbcr region of 11p13, two involving a novel translocation t(7;11)(q35;p13), with breakage at the T cell receptor (TCR) beta gene from 7q35, and three involving TCR delta from 14q11 in the more common t(11;14)(p13;q11). Analysis of the mechanism of one T-ALLbcr/TCR beta translocation and a previously described t(11;14)(p13;q11) was conducted by genomic cloning of translocation breakpoints, using the polymerase chain reaction (PCR). Both seem to have occurred by recombinase error, but only the t(7;11) showed sequence-specific joining. Nonetheless recombinase mediation of the t(11;14) is implied by the presence of N-region addition (a hallmark of recombinase joins) on both derivative chromosomes. These observations reinforce the view that translocations in the T-ALLbcr region of chromosome 11p13 are a major lesion in human T-ALL. In addition, these can occur by mimicry of VDJ joining, but sequence specificity is not obligatory.
人类T细胞急性淋巴细胞白血病（T-ALL）中易位损伤的常见位点已定位到染色体带11p13的特定区域。本文描述了5例新的T-ALL病例，这些病例在11p13的主要T-ALLbcr区域发生断裂，其中2例涉及一种新的易位t(7;11)(q35;p13)，在7q35的T细胞受体（TCR）β基因处发生断裂，另外3例在更常见的t(11;14)(p13;q11)中涉及14q11的TCRδ。通过使用聚合酶链反应（PCR）对易位断点进行基因组克隆，分析了1例T-ALLbcr/TCRβ易位和1例先前描述的t(11;14)(p13;q11)的机制。两者似乎都是由重组酶错误导致的，但只有t(7;11)表现出序列特异性连接。尽管如此，两条衍生染色体上都存在N区添加（重组酶连接的一个标志），这意味着t(11;14)是由重组酶介导的。这些观察结果强化了这样一种观点，即染色体11p13的T-ALLbcr区域的易位是人类T-ALL中的主要病变。此外，这些易位可以通过模仿VDJ连接发生，但序列特异性并非必需。
