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重组激活基因RAG-1和RAG-2在皮肤T细胞淋巴瘤中表达缺失:致病意义。

Lack of expression of the recombination activating genes RAG-1 and RAG-2 in cutaneous T-cell lymphoma: pathogenic implications.

作者信息

Döbbeling U, Dummer R, Hess Schmid M, Burg G

机构信息

Department of Dermatology, University Hospital of Zurich, Switzerland.

出版信息

Clin Exp Dermatol. 1997 Sep;22(5):230-3.

PMID:9536544
Abstract

Analyses of the karyotype and genome of cutaneous T-cell lymphoma (CTCL) cells have shown that they contain chromosome breaks and translocations. The sequence analyses of such DNA breakpoints found in various kinds of leukaemias have suggested that some of the observed translocations have been caused by illegitimate V(D)J (v = Variability; D = diversity; J = joining) recombination. To study whether illegitimate V(D)J recombination is responsible for the continuously increasing number of DNA breaks in CTCL, we used reverse transcriptase polymerase chain reaction (RT-PCR) to analyse three CTCL cell lines and biopsies from 14 CTCL patients for the expression of the RAG-1 and RAG-2 genes which are essential for V(D)J recombination. We found no RAG gene expression in any of the 17 samples analysed, indicating that illegitimate V(D)J recombination may not be the reason for the increased number of chromosomal aberrations and translocations in CTCL cells.

摘要

皮肤T细胞淋巴瘤(CTCL)细胞的核型和基因组分析表明,它们含有染色体断裂和易位。对在各种白血病中发现的此类DNA断点的序列分析表明,一些观察到的易位是由非法的V(D)J(V = 可变区;D = 多样性区;J = 连接区)重排引起的。为了研究非法的V(D)J重排在CTCL中不断增加的DNA断裂数量中是否起作用,我们使用逆转录聚合酶链反应(RT-PCR)分析了三个CTCL细胞系以及14例CTCL患者的活检样本中RAG-1和RAG-2基因的表达情况,这两个基因对于V(D)J重排至关重要。我们在分析的17个样本中均未发现RAG基因表达,这表明非法的V(D)J重排可能不是CTCL细胞中染色体畸变和易位数量增加的原因。

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