一例T细胞淋巴瘤白血病患者A20基因启动子和3＇UTR区新突变的鉴定  

Detection of promoter and 3＇ UTR mutation in A20 gene of a case with T cell lymphoma cell leukemia

作　　者：周玲玲 罗更新 朱丽花[2] 韦祁[1] 魏永强[1] 冯茹[1] 李扬秋[3] Zhou Lingling, Luo Gengxin, Zhu Lihua, Wei QL Wei Yongqiang, Feng Ru, Li Yangqiu(Department of Hematology, the First Affiliated Hospital, Jinan University, Guangzhou 510630, China)

机构地区：[1]南方医科大学南方医院血液内科,广州510515 [2]暨南大学附属第一医院血液科 [3]暨南大学血液病研究所

出　　处：《中华血液学杂志》2018年第10期851-854,共4页Chinese Journal of Hematology

基　　金：广东省科技计划项目（2016A020215123、2015A050502029）;国家自然科学基金（91129720）

摘　　要：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（rsl39054966），同时发现在A20基因3＇UTRmRNA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rsl39054966（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。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.

关 键 词：A20基因 3’非编码区 启动子 T细胞淋巴瘤白血病 多态性 单核苷酸 

分 类 号：R733.7[医药卫生—肿瘤]