Müller J R, Janz S, Goedert J J, Potter M, Rabkin C S
Laboratory of Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Proc Natl Acad Sci U S A. 1995 Jul 3;92(14):6577-81. doi: 10.1073/pnas.92.14.6577.
We studied blood lymphocytes of human immunodeficiency virus (HIV)-seropositive and -negative homosexual men for the presence of T(8;14) translocations that recombine c-myc and immunoglobulin heavy-chain (IgH) mu/IgH alpha switch regions. Clones with T(8;14) translocations were detected in 10.5% (12/114) of the HIV-positive and in 2.0% of the 99 uninfected patients. The majority of recombinations were found at a single time point only. Four patients, however, harbored multiple (up to four) and persistent (up to 9 years) translocation-positive cell clones. No correlation between the presence of these aberrant lymphocytes and a later lymphoma could be established. The exon 1/intron 1 region of the recombined c-myc was investigated for the presence of point mutations and these were found in the nonpersistent clones. Additional alterations detected in these clones included duplications and a deletion in the c-myc gene. The pattern of base substitution indicates that they were introduced after the translocation event.
我们研究了人类免疫缺陷病毒(HIV)血清反应阳性和阴性的同性恋男性的血液淋巴细胞,以检测是否存在T(8;14)易位,该易位会使c-myc与免疫球蛋白重链(IgH)μ/IgHα转换区发生重组。在10.5%(12/114)的HIV阳性患者和2.0%的99名未感染患者中检测到了带有T(8;14)易位的克隆。大多数重组仅在单个时间点被发现。然而,有4名患者携带多个(多达4个)且持续存在(长达9年)的易位阳性细胞克隆。这些异常淋巴细胞的存在与随后发生的淋巴瘤之间未发现相关性。对重组c-myc的外显子1/内含子1区域进行了点突变检测,在非持续性克隆中发现了点突变。在这些克隆中检测到的其他改变包括c-myc基因的重复和缺失。碱基替代模式表明它们是在易位事件之后出现的。