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急性髓系白血病中Vδ2 TCRδ基因重排的异质性

Heterogeneity of V delta 2 TCR delta gene rearrangements in acute myeloid leukemia.

作者信息

Schmidt C A, Przybylski G, Oettle H, Seeger K H, Ludwig W D, Siegert W

机构信息

Innere Medizin, Abt. Hämatologie, UKRV, Freie Universität, Berlin, Germany.

出版信息

Leuk Lymphoma. 1994 Dec;16(1-2):73-7. doi: 10.3109/10428199409114142.

Abstract

In a previous study, we described the occurrence of T-cell receptor (TCR)delta gene rearrangements in 9/100 acute myeloid leukemia (AML) cases. In this study, we further characterized these rearrangements by Southern Blot hybridization using a V delta 2 specific probe and polymerase chain reaction (PCR). Southern Blot analysis revealed that rearrangements involved the V delta 2 gene segment in four patients. Interestingly the restriction fragments detected by the V delta 2 probe differed markedly in size. PCR analysis revealed a complete V delta 2(Dn)J delta 1 gene rearrangement, an incomplete V delta 2D delta 3 rearrangement and a large amplification product, which cannot be explained with normal VDJ recombinatorial processes, in one case each. Furthermore although V delta 2 and J delta were rearranged, no comigration of rearranged fragments was observed and no PCR product was obtained in one case. Obtained results in AML differ from findings in acute lymphoblastic leukemia (ALL) of B-cell lineage, where a more homogeneous pattern of rearrangements has been described. This heterogeneity might be related to the illegitimate occurrence of TCR delta gene rearrangements in AML.

摘要

在之前的一项研究中,我们描述了在100例急性髓系白血病(AML)病例中有9例发生了T细胞受体(TCR)δ基因重排。在本研究中,我们使用Vδ2特异性探针通过Southern印迹杂交和聚合酶链反应(PCR)对这些重排进行了进一步表征。Southern印迹分析显示,4例患者的重排涉及Vδ2基因片段。有趣的是,Vδ2探针检测到的限制性片段大小差异显著。PCR分析显示,在各1例患者中分别存在一个完整的Vδ2(Dn)Jδ1基因重排、一个不完整的Vδ2Dδ3重排和一个无法用正常VDJ重组过程解释的大扩增产物。此外,尽管Vδ2和Jδ发生了重排,但在1例患者中未观察到重排片段的共迁移,也未获得PCR产物。AML中获得的结果与B细胞系急性淋巴细胞白血病(ALL)中的发现不同,后者已描述了一种更均匀的重排模式。这种异质性可能与AML中TCRδ基因重排的异常发生有关。

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