Objective: To clarify the characteristics of the A20 regulatory changes by analyzing mutations in the non-coding region of the A20 gene in patients with T-cell lymphoma leukemia (T-LCL) . Methods: PCR and nucleotide sequence analysis were used to detect mutations in the non-coding region of the A20 gene, and DNA samples from PBMCs of 52 cases of T-LCL and 99 healthy controls. Results: A missense mutation (c.-672T>G) was detected in the A20 gene promoter from one T-LCL patient, which has been registered as a SNP (rs139054966) in gene bank. Meanwhile, a new mutation was detected in the 3' UTR mRNA (3916 (C>G) ) . These two mutations were absent in other T-LCL samples and controls. Conclusion: The rs139054966 (c.-672T>G) and 3916 (C>G) mutations in the A20 gene were detected in T-LCL patients for the first time. There was also rs139054966 located on the binding region of the transcription factor P53, and its significance remained to be further clarified.
目的： 分析T细胞淋巴瘤白血病患者A20基因非编码区（UTR）突变情况，了解A20基因调控改变特点。 方法： 利用PCR和核苷酸序列分析方法检测52例T细胞白血病患者和99名健康对照者外周血单个核细胞中A20基因启动子区和3′UTR基因突变。 结果： 在1例T细胞淋巴瘤白血病患者中，发现其A20基因启动子区存在错义突变（c.-672T>G），该突变在基因库中已作为单核苷酸多态性登记（rs139054966），同时发现在A20基因3′UTR mRNA的3916位点存在核苷酸替换（C>G），而在其他T细胞白血病样本和健康对照组中均未发现这两种改变。 结论： 首次发现T细胞肿瘤中存在A20基因的rs139054966（c.-672T>G）和3916（C>G）改变，前者位于转录因子P53的结合区域，其具体意义有待进一步明确。.
Keywords: 3′UTR; A20 gene; Polymorphism, single nucleotide; Promoter; T cell lymphoma cell leukemia.