Chinese Journal of Dermatology ›› 2022, Vol. 55 ›› Issue (8): 690-692.doi: 10.35541/cjd.20210299
• Research Reports • Previous Articles Next Articles
Wang Jianbo, Zhang Shuai, Shao Yi, Dou Jinfa, Wang Chen, Zhang Shoumin, Li Zhenlu
Received:
2021-04-18
Revised:
2021-09-28
Online:
2022-08-15
Published:
2022-08-02
Contact:
Zhang Shoumin
E-mail:henanpifu@sina.com
Supported by:
Wang Jianbo, Zhang Shuai, Shao Yi, Dou Jinfa, Wang Chen, Zhang Shoumin, Li Zhenlu. Mutation analysis of the ADAR gene in two cases of dyschromatosis symmetrica hereditaria and a survey of their families[J]. Chinese Journal of Dermatology, 2022, 55(8): 690-692.doi:10.35541/cjd.20210299
[1] | Wang Y, Zeng Y, Murray JM, et al. Genomic organization and chromosomal location of the human dsRNA adenosine deaminase gene: the enzyme for glutamate⁃activated ion channel RNA editing[J]. J Mol Biol, 1995,254(2):184⁃195. |
[2] | Schade M, Turner CJ, Kühne R, et al. The solution structure of the Zalpha domain of the human RNA editing enzyme ADAR1 reveals a prepositioned binding surface for Z⁃DNA[J]. Proc Natl Acad Sci U S A, 1999,96(22):12465⁃12470. doi: 10.1073/pnas. 96.22.12465. |
[3] | 李明, 杨森, 蒋亦秀, 等.一遗传性对称性色素异常症家系ADAR基因突变检测[J]. 中华皮肤科杂志, 2005,38(9):551⁃553. |
[4] | Miyamura Y, Suzuki T, Kono M, et al. Mutations of the RNA⁃specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria[J]. Am J Hum Genet, 2003,73(3):693⁃699. doi: 10.1086/378209. |
[5] | Wang P, Yu S, Liu J, et al. Seven novel mutations of ADAR in multi⁃ethnic pedigrees with dyschromatosis symmetrica hereditaria in China[J]. Mol Genet Genomic Med, 2019,7(10):e00905. doi: 10.1002/mgg3.905. |
[6] | Li M, Yang L, Li C, et al. Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria[J]. Arch Dermatol Res, 2010,302(6):469⁃476. doi: 10.1007/s00403⁃010⁃1039⁃2. |
[7] | 侯艳霞, 任韵清, 陈建军, 等. 遗传性对称性色素异常症的基因突变分析[J]. 安徽医科大学学报, 2006,41(3):294⁃298. doi: 10.3969/j.issn.1000⁃1492.2006.03.019. |
[8] | Zhang XJ, He PP, Li M, et al. Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH)[J]. Hum Mutat, 2004,23(6):629⁃630. doi: 10.1002/humu.9246. |
[9] | 陈源昊琪, 焦亚宁, 杨彪, 等. 一个遗传性对称性色素异常症家系ADAR1基因突变分析[J]. 中华皮肤科杂志, 2018,51(8):597⁃598. doi: 10.3760/cma.j.issn.0412⁃4030.2018.08.009. |
[10] | Tang ZL, Wang S, Tu C, et al. Eight novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria[J]. Genet Test Mol Biomarkers. 2018, 22(2):104⁃108. doi: 10.1089/gtmb.2017.0207. |
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