中文摘要：

目的了解TCRζ缺陷的急性髓细胞白血病（acute myeloid leukemia,AML）病人外周血T细胞中Elf-1、Zap-70和FcεR Iγ基因的表达特点。方法采用SYBR GreenⅠ荧光定量PCR和相对定量分析法检测10例TCRζ缺陷的AML病人外周血CD3＋T细胞中Zap-70、Elf-1和FcεR Iγ基因的表达情况。以β2微球蛋白基因（β2M）作为内参,10例健康成人作为对照;采用相对定量公式：2-△Ct×100%,计算Zap-70、Elf-1和FcεR Iγ基因的表达水平。结果 TCRζ缺陷的AML病人外周血T细胞中Elf-1基因的表达水平（中位数8.526%）明显低于健康对照组（中位数33.237%）（P〈0.001）,而FcεR Iγ基因的表达水平（中位数2.571%）则高于健康对照组（中位数0.958%）（P=0.019）,Zap-70基因在两组中的表达水平没有显著性差异,但均与TCRζ基因的表达水平呈正相关。结论 TCRζ缺陷的AML病人T细胞中Elf-1基因的低表达可能是导致AML病人TCRζ基因缺陷性表达的原因之一,而FcεR Iγ基因的高表达则可能是在一定程度上缓解了TCRζ基因缺陷性表达所带来的T细胞免疫异常。

英文摘要：

Acute myeloid leukemia （AML） is a clonal disorder of the stem cells and impairs cell mediated immune response. In our previous research, dysregulation of TCR （ gene expression has been identified in patients with AML. In this study, we aimed to investigate the expression levels of Elf-1, Zap-70 and FαR IT genes in AML patients with TCR ζ deficiency. Real-time PCR with SYBR Green I technique were used to determine the expression of Elf-1, Zap-70 and FcεR IT genes in CD3＋ T cells sorted from peripheral blood mononuclear cells of 10 AML patients with TCR ζ gene deficiency. The peripheral blood from 10 cases healthy individuals was served as control. By using β2-microglobulin gene （β2m） as an endogenous reference, relative mRNA expression level of Elf-l, Zap-70 and FcεR IT genes was analyzed by using the 2-△Crx100% method. The relative mRNA expression level of Elf-1 in T cells from AML patients with TCR ζ deficiency （median： 8.526%） was significantly lower than those from healthy individuals （median： 33.237%, P〈0.001）. However, the expression level of FceR IT gene （median： 2.571%） was obviously higher than those from healthy individuals （median： 0.958%, P=0.019）. No significant difference expression level was found in Zap-70 between AML versus healthy individuals. However, there was a significant positive correlation between the relative expression levels of Zap-70 and TCR （ gene. In conclusion, the lower expression of Elf-1 gene in T cells from AML patients might be one of the reasons that lead to the deficiency of TCR ζ gene, whereas, the over-expression of FcεR IT gene might partially overcome the abnormal T-cell immune state due to the deficiency of TCR ζgene in patients with AML.