Tsujimoto Y, Bashir M M, Givol I, Cossman J, Jaffe E, Croce C M
Proc Natl Acad Sci U S A. 1987 Mar;84(5):1329-31. doi: 10.1073/pnas.84.5.1329.
In most human follicular lymphomas, the chromosome translocation t(14;18) occurs within two breakpoint clustering regions on chromosome 18, the major one at the 3' untranslated region of the bcl-2 gene and the minor one at 3' of the gene. Analysis of a panel of follicular lymphoma DNAs using probes for the first exon of the bcl-2 gene indicates that DNA rearrangements may also occur 5' to the involved bcl-2 gene. In this case the IgH locus and the bcl-2 gene are found in the order 3' C gamma S gamma/mu JH 5'::5' bcl-2 3' (where C = constant, S = switch, and JH = joining segment of the heavy chain locus), suggesting that an inversion also occurred during the translocation process. The coding regions of the bcl-2 gene, however, are left intact in all cases of follicular lymphoma studied to date.
在大多数人类滤泡性淋巴瘤中，染色体易位t(14;18)发生在18号染色体上的两个断点簇集区域内，主要断点位于bcl-2基因的3'非翻译区，次要断点位于该基因的3'端。使用针对bcl-2基因第一个外显子的探针分析一组滤泡性淋巴瘤DNA表明，DNA重排也可能发生在涉及的bcl-2基因的5'端。在这种情况下，IgH基因座和bcl-2基因的排列顺序为3' Cγ Sγ/μ JH 5'::5' bcl-2 3'（其中C = 恒定区，S = 转换区，JH = 重链基因座的连接段），这表明在易位过程中也发生了倒位。然而，在迄今为止研究的所有滤泡性淋巴瘤病例中，bcl-2基因的编码区均保持完整。
