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目的:鉴定T细胞-急性淋巴母细胞白血病(T-ALL)异常基因重排。方法:利用基于T细胞受体(TCR)基因位点的精细定位的寡核苷酸阵列比较基因组杂交(FT-aCGH)技术分析1例T-ALL样本与对照组基因组DNA的差异,了解7号和14号染色体TCRβ、TCRγ和TCRαδ位点上可能的断裂点位置,根据所提供的初步结果,根据断裂点涉及的基因序列设计特异引物,采用连接介导PCR(LM-PCR)和序列分析等方法分析与之发生重排的基因序列。结果:FT-aCGH结果显示所检测T-ALL样本中,各TCR基因位点都存在断裂点,经过LM-PCR和序列分析,以及利用PCR和特异引物检测基因组DNA结果确定了T-ALL克隆为Vα8-Jα22基因重排,并发现了7号染色体在TCRβ基因位点,Vβ20-1基因片段与14号染色体位于免疫球蛋白重链区基因位点的IgHVII-26-2基因片段发生异常重排,形成t(7;14)(q34;q32)染色体易位。结论:利用FT-aCGH和LM-PCR技术在1例T-ALL中发现了一种新的Vβ20-1-IgHVII-26-2异常重排,这种异常重排有可能可以作为该肿瘤克隆的生物标记物。
Objective: To identify abnormal gene rearrangements in T cell-acute lymphoblastic leukemia (T-ALL). METHODS: The genomic DNA of one T-ALL sample was compared with that of the control group by using FT-aCGH based on the fine positioning of the T cell receptor (TCR) gene locus. Based on the preliminary results provided, specific primers were designed according to the gene sequence involved in the breakpoint, using connection-mediated PCR (LM-PCR) and sequence analysis, and the like, as well as possible breakpoint locations on the TCRβ, TCRγ and TCRαδ sites on chromosome 14 Methods Analyze the gene sequences with which rearrangements occur. Results: The results of FT-aCGH showed that the T-ALL samples were found to have breakpoints at each TCR locus. The results of LM-PCR and sequence analysis and genomic DNA detection using PCR and specific primers confirmed that T-ALL clones were Vα8-Jα22 gene rearrangement and found that the chromosome 7 in the TCRβ locus, Vβ20-1 gene fragment and 14 chromosome located in immunoglobulin heavy chain gene region IgHVII-26-2 gene fragment rearrangement abnormalities , Forming a t (7; 14) (q34; q32) chromosomal translocation. CONCLUSIONS: A novel Vβ20-1-IgHVII-26-2 aberrant rearrangement was found in one case of T-ALL using FT-aCGH and LM-PCR techniques, and this aberrant rearrangement may be used as the clonality of this tumor Biomarkers.