Detection of promoter and 3' UTR mutation in A20 gene of a case with T cell lymphoma cell leukemia.
10.3760/cma.j.issn.0253-2727.2018.10.012
- VernacularTitle: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
- Author:
Ling Ling ZHOU
;
Geng Xin LUO
1
;
Li Hua ZHU
;
Qi WEI
;
Yong Qiang WEI
;
Ru FENG
;
Yang Qiu LI
Author Information
1. Department of Hematology, the First Affiliated Hospital, Jinan University, Guangzhou 510630, China.
- Publication Type:Journal Article
- Keywords:
3′UTR;
A20 gene;
Polymorphism, single nucleotide;
Promoter;
T cell lymphoma cell leukemia
- MeSH:
3' Untranslated Regions;
Humans;
Leukemia;
Lymphoma, T-Cell;
Mutation;
Promoter Regions, Genetic
- From:
Chinese Journal of Hematology
2018;39(10):851-854
- CountryChina
- Language:Chinese
-
Abstract:
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.
