Djabali M, Selleri L, Parry P, Bower M, Young B D, Evans G A
Molecular Genetics Laboratory, Salk Institute for Biological Studies, La Jolla, California 92037.
Nat Genet. 1992 Oct;2(2):113-8. doi: 10.1038/ng1092-113.
Some acute lymphocytic leukaemias, particularly those in young children, are associated with a t(4;11)(q21;q23) reciprocal translocation. We have cloned the translocation breakpoint on chromosome 11q23 and isolated corresponding RNA transcripts from this region. The translocation occurs within a cluster of Alu repetitive elements located within an intron of a gene that gives rise to 11.5 (kb) transcript spanning the translocation breakpoint. The 11.5 kb transcript encodes a protein that is highly homologous to the Drosophila trithorax gene, a developmental regulator. An analysis of a series of leukaemic patients carrying t(4;11) and t(9;11) translocations indicate that the majority of breakpoints in infant leukaemias lie within a 5 kb region.
一些急性淋巴细胞白血病，尤其是发生在幼儿中的那些，与t(4;11)(q21;q23)相互易位有关。我们已经克隆了11号染色体q23上的易位断点，并从该区域分离出了相应的RNA转录本。易位发生在位于一个基因内含子内的Alu重复元件簇内，该基因产生跨越易位断点的11.5（kb）转录本。11.5 kb转录本编码一种与果蝇三体胸苷基因高度同源的蛋白质，后者是一种发育调节因子。对一系列携带t(4;11)和t(9;11)易位的白血病患者的分析表明，婴儿白血病中的大多数断点位于一个5 kb的区域内。
