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张蓓1 秦炜炜1 陈仁安1 兰淼2 姚丽2 王萌1 肖芳1 王颖1 刘利1.Notch 1 在外周T 细胞淋巴瘤中的表达及基因突变 及其与临床生存期的相关性研究[J].现代生物医学进展英文版,2012,12(8):1457-1461.
Notch 1 在外周T 细胞淋巴瘤中的表达及基因突变 及其与临床生存期的相关性研究
Association between Clinical Survival Time and the Expression of theNotch1 and the Mutation of the NOTCH1 in PTCL
  
DOI:
中文关键词: NOTCH1  突变  外周T 细胞淋巴瘤  急性T 淋巴细胞白血病  NF-KB
英文关键词: NOTCH1  Mutate  PTCL  T-ALL  NF-KB
基金项目:
Author NameAffiliation
ZHANG Bei1, QIN Wei-wei1, CHEN Ren-an1, LAN Miao2, YAO Li2, WANG Meng1, XIAO Fang1, WANG Ying1, LIU Li1 第四军医大学唐都医院血液科 
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中文摘要:
      目的:检测活化型notch1(NICD)蛋白在外周T 细胞淋巴瘤组织中的表达情况,探讨活化型notch1 对外周T 细胞淋巴瘤患 者生存时间的影响,分析其与NOTCH1 基因突变之间的关系。方法:免疫组织化学法检测20 例外周T 细胞淋巴瘤(13 例PTCL NOS、7 例ALCL)及5 例反应性增生患者病变组织活化型notch 1(NICD)抗体的表达,PCR-SSCP 及基因测序法分析NOTCH1 基 因HD-N、HD-C、TAD、PEST 片段的突变情况。结果:20 例外周T 细胞淋巴瘤NICD 蛋白均为阳性,5 例慢性淋巴结炎均为阴性, 其中PTCL NOS 组织较ALCL 高表达NICD 蛋白。淋巴瘤患者HD-N、HD-C、PEST 片段存在基因点突变。结论:NOTCH1 基因点 突变可能为异常表达NICD 的原因之一,异常表达的NICD 影响外周T 细胞淋巴瘤的生存时间。
英文摘要:
      Objective: To investigate the expression of the activated notch1 (NICD) protein in PTCL, and its relationship with the NOTCH1 gene mutated and the clinical survival time. Methods: Immunohistochemistry was used to detect the protein expression of the activated notch1 (NICD) in 20 specimens PECL (13 specimens PTCL NOS and 7 specimens ALCL) and 5 specimens chronic lymphadenitis as control. PCR-SSCP and gene sequence analysis were used to analyze the NOTCH1 gene mutations in the HD-C, HD-N, TAD and PEST domains. Results: Compared with that in the control, all 20 specimens PTCL were positive for the activated notch1 (NICD) protein, and the lever of the expression of NICD was higher in PTCL NOS than that in the ALCL. HD-N, HD-C, PEST domains exist point mutation. Conclusion: NOTCH1 gene mutation may cause the expression of NICD,and the express of the NICD can affact the surivival time of the PTCL patains.
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