| DDR相关蛋白缺陷引起的原发性免疫缺陷表型研究进展 |
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| 引用本文： | 曾宪思,贾金婧,陈磊,余亚军,宋新强.DDR相关蛋白缺陷引起的原发性免疫缺陷表型研究进展[J].信阳师范学院学报(自然科学版),2018(2):339-344. |
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| 作者姓名： | 曾宪思 贾金婧 陈磊 余亚军 宋新强 |
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| 作者单位： | 信阳师范学院生命科学学院;信阳师范学院大别山农业生物资源保护与利用研究院;信阳市林业工作站 |
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| 摘 要： | 在细胞内可变区基因(多样化基因)连接区基因片段重组(variable(diversity)joining recombination,V(D)J)与免疫球蛋白的类别转换重组(class switch recombination,CSR)过程中会产生程序性DNA双链断裂(DNA double strand break,DSB).当检测到DSB发生时DNA损伤反应(DNA damage response,DDR)被启动.DDR缺陷的病人具有原发性免疫缺陷表型(primary immunodeficiency,PID).总结了V(D)J重组与CSR产生DDR的分子机制,综述了V(D)J重组与CSR过程中DDR相关蛋白缺陷引起的原发性免疫缺陷表型.
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| 关 键 词： | V(D)J重组 类别转换重组 DNA损伤反应 原发性免疫缺陷表型 |
Progress in DDR Protein Defect-induced Primary Immunodeficiency Phenotypes |
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| Institution: | ,College of Life Sciences,Xinyang Normal University,Institute for Conservation and Utilization of Agro-bioresources in Dabie Mountains,Xinyang Normal University,Forestry Workstation in Xinyang |
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| Abstract: | Programmed DNA double strand breaks( DSB) are generated during V( D) J recombination and class switch recombination( CSR) of immunoglobulin. DNA damage response( DDR) is initiated when DSB are detected.The patients with DDR defect present phenotype of primary immunodeficiency( PID). This article will mainly focus on phenotypes of PID due to impaired DDR,firstly summarizing the mechanism of V( D) J recombination and CSR-induced DDR,then reviewing the PID phenotypes induced by DDR protein defect in V( D) J recombination and CSR. |
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| Keywords: | V(D) J recombination class switch recombination DNA damage response phenotype of primary immunodeficiency |
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