Still I H, Chernova O, Hurd D, Stone R M, Cowell J K
Department of Neurosciences, Cleveland Clinic Foundation, OH 44195, USA.
Blood. 1997 Oct 15;90(8):3136-41.
A reciprocal chromosome translocation between 13q12 and 8p11 is the consistent cytogenetic abnormality seen in a nonspecific myeloproliferative disorder that is associated with T-cell leukemia/lymphoma and peripheral blood eosinophilia. Detailed molecular analyses of the translocation breakpoints associated with this rearrangement have not been reported to date. We have now generated somatic cell hybrids from a newly described patient with this specific structural rearrangement and analyzed the breakpoints on the derivative chromosomes. We have shown that the breakpoint on chromosome 13 lies within a 300- to 500-kb region defined by the KIAA177 gene and D13S1123 marker. In addition, we have identified a 1.2-Mb YAC, 959A4, that crosses the translocation breakpoint on the short arm of chromosome 8 in this patient. The location of this breakpoint in 8p11 is distinct from the t(8;16) and t(8;22) translocations associated with M4/M5 myeloid leukemias, and suggests that three distinct loci located within 8p11 are involved in the pathogenesis of myeloid neoplasias.
13q12与8p11之间的相互染色体易位是在一种非特异性骨髓增殖性疾病中一致出现的细胞遗传学异常，该疾病与T细胞白血病/淋巴瘤及外周血嗜酸性粒细胞增多相关。迄今为止，尚未有关于与此重排相关的易位断点的详细分子分析报告。我们现在从一名新描述的具有这种特定结构重排的患者中产生了体细胞杂种，并分析了衍生染色体上的断点。我们已表明，13号染色体上的断点位于由KIAA177基因和D13S1123标记定义的300至500kb区域内。此外，我们鉴定出一个1.2Mb的酵母人工染色体959A4，它在该患者中跨越了8号染色体短臂上的易位断点。8p11中此断点的位置不同于与M4/M5髓系白血病相关的t(8;16)和t(8;22)易位，这表明位于8p11内的三个不同位点参与了髓系肿瘤的发病机制。
