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| 1 | RASSF1A在食管鳞癌组织中的表达、甲基化状态及其与预后之间的关系显示文摘目的:探讨RASSF1A基因的异常表达与食管鳞癌(esophageal squamous cell carcinoma,ESCC)发生发展的关系.方法:应用实时RT-PCR方法及实时荧光甲基化特异性聚合酶链反应技术,分别检测49例ESCC患者癌组织及癌旁正常组织中RASSF1A基因的转录表达情况和启动子区域5'-CpG岛的甲基化状态.分析RASSF1A基因在ESCC中的转录表达情况、甲基化状态及与临床病理因素、预后之间的关系.结果:在49例ESCC标本中,有26(53.06%)例RASSF1A mRNA表达下调,RASSF1A mRNA在食管鳞癌组织及相应的癌旁正常组织中的表达存在显著统计学差异(P<0.05),RASSF1A mRNA的表达缺失与ESCC患者的淋巴结转移、临床TNM分期及不良预后均存在显著相关性(均P<0.05);有38(77.60%)例RASSF1A基因启动子区域5'-CpG岛高甲基化,与之相对应的癌旁正常组织中仅有3(6.10%)例,两者差异有统计学意义(P<0.05),RASSF1A基因的高甲基化状态与淋巴结转移、临床TNM分期及不良预后均存在显著相关性(均P<0.05);在26例RASSF1A基因转录表达缺失的ESCC组织中有24例发生了启动子区域5'-CpG岛的高甲基化,RASSF1A基因在ESCC中的转录表达缺失与其启动子5'-CpG岛高甲基化显著相关(P<0.05).结论:RASSF1A基因启动子5'-CpG岛高甲基化在ESCC是一高频分子事件,与该基因的转录表达缺失显著相关,是其转录表达缺失的主要机制之一. | 郑秋青 凌志强 李沛 程蕾 毛伟敏 | 2010 | 世界华人消化杂志2010，18，29： | 7 |
| 2 | Study on RIZ1 gene promoter methylation status in human esophageal squamous cell carcinoma显示文摘AIM:To investigate the promoter region methylation status of retinoblastoma protein-interacting zinc finger gene 1(RIZ1) in the human esophageal squamous cell carcinoma(ESCC) cell lines and tissues and verify the relationship between methylation of RIZ1 and oncogenesis,tumor progression and metastasis etc of ESCC.METHODS:Methylation-specific polymerase chain reaction(MSP) was used to investigate the promoter region methylation status of RIZ1 in 6 ESCC cell lines.One cell line where RIZ1 promoter region methylation was detected was selected for the next study,where the cell line was treated with 5-aza-CdR.Real-time polymerase chain reaction was used to investigate its influence on the transcription of RIZ1.Experiments using frozenpathological specimens from 47 ESCC patients were performed using the same MSP methodology.RESULTS:Promoter methylation of RIZ1 gene was detected in TE13,CaEs17 and EC109 cell lines and the cell line TE13 was chosen for further study.The expression of RIZ1 mRNA in TE-13 was up-regulated after treatment with 5-aza-CdR.The rate of methylation in carcinomas tissues was significantly higher than those in matched neighboring normal and distal ending normal tissue,and the deviation of data was statistically significant(χ 2 = 24.136,P < 0.01).Analysis of the gender,age familial history,tumour deviation,tumour saturation,lymph gland displacement and clinical staging of 47 samples from ESCC patients showed that the fluctuation of data was not statistically significant.CONCLUSION:Promoter methylation may play an important role in the epigenetic silencing of RIZ1 gene expression in human ESCC.RIZ1 is considered to be a potential tumor suppressor gene and may be a biological parameter for testing early stage human ESCC. | Shang-Wen Dong Peng Zhang Yi-Mei Liu Yuan-Tao Cui Shuo Wang Shao-Jie Liang Zhun He Pei Sun Yuan-Guo Wang | 2012 | World Journal of Gastroenterology2012，18，6： | 6 |
| 3 | 增生性瘢痕与瘢痕疙瘩DNA拷贝数变化的差异分析显示文摘背景:近年来临床遗传学和分子生物学研究均表明,瘢痕疙瘩的形成与遗传具有密切的关系,但增生性瘢痕与遗传是否有关,目前尚未明确。目的:了解增生性瘢痕与瘢痕疙瘩在遗传学改变上的异同。设计、时间及地点:对比观察,实验于2007-03/2008-12在广东医学院完成。材料:瘢痕标本均来自2003-01/2008-12广东医学院附属医院整形外科门诊及住院患者16例,其中增生性瘢痕10例,男3例,女7例,年龄20~50岁;瘢痕疙瘩6例,男1例,女5例,年龄19~46岁。方法:提取瘢痕疙瘩及增生性瘢痕组织DNA,应用比较基因组杂交技术观察增生性瘢痕及瘢痕疙瘩基因组的不平衡即遗传物质的丢失或扩增情况,比较两者间DNA拷贝数变化的差异。主要观察指标:①两组DNA拷贝数的缺失率的比较。②两组DNA拷贝数的扩增率的比较。结果:增生性瘢痕组未发现特异区域的DNA拷贝数的高频率缺失或扩增;瘢痕疙瘩组出现高频率的DNA拷贝数缺失的染色体是1,16,20号及22号染色体,未发现特异区域的DNA拷贝数的高频率扩增。两组1,16,20,22染色体DNA拷贝数的缺失率相比较,瘢痕疙瘩组明显高于增生性瘢痕组(P<0.05)。结论:与瘢痕疙瘩相比,增生性瘢痕不存在明显的DNA拷贝数缺失或扩增,增生性瘢痕的形成与发展可能与遗传没有直接的关系。 | 张刚 罗少军 左永详 汤少明 梁杰 赵明权 | 2009 | 中国组织工程研究与临床康复2009，13，28： | 4 |
| 4 | 肝细胞癌患者术后复发相关的6号染色体短臂拷贝数变异及靶基因显示文摘目的探讨染色体6p拷贝数变异(CNA)与肝细胞癌(HCC)术后肝内复发的相关性,探讨相关靶基因。方法采用微阵列比较基因组杂交和表达芯片分别检测CNAs和基因表达。6p CNAs与66例HCC复发的相关性采用生存分析。117例HCC的差异表达基因分析采用Mann-Whitney U检验。结果在66例HCC中,46例(69.7%)呈现6p CNAs。在8个高频(发生率〉20%)CNAs中,6p21.1增益是复发(HR=2.3,95%CI=1.1~5.1,P〈0.05),特别是近期复发(≤1年;HR=3.5,95%CI=1.4~8.2,P〈0.05)的独立预后因素。片段内BYSL、RPL7L1等9个基因表达水平在6p21.1增益组高于无增益组(均P〈0.05)。BYSL高表达与肿瘤直径大于6cm、血管侵犯和高肿瘤分期有关(均P〈0.05);RPL7L1高表达与血管侵犯和高肿瘤分期有关(均P〈0.05)。结论6p21.1增益是HCC术后肝内复发特别是近期复发的独立预后因素,BYSL和RPLTL1可能是靶基因。 | 闻炳基 贺松琴 叶映泉 丛文铭 艾婷婷 余慈波 朱忠政 | 2015 | 中华肝胆外科杂志2015，21，12： | 4 |
| 5 | 食管癌比较基因组杂交研究进展显示文摘随着比较基因组杂交(comparative genomic hybridiza-tion,CGH)技术在研究肿瘤相关染色体异常方面的应用,已发现在食管癌中存在大量染色体基因组拷贝数变化,其中一些拷贝数变化与食管癌的转移、预后及病理分期等相关。利用高分辨率、高通量微阵列比较基因组杂交芯片(array basedcomparative genomic hybridization,array-CGH)进一步对基因拷贝数变化及候选基因进行鉴定、分析,为食管癌发生、发展以及早期诊断、预测预后等提供有价值的理论依据。本文就食管癌比较基因组杂交研究现况进行综述。 | 常爱敏 刘春霞 陈云昭 李锋 | 2011 | 临床与实验病理学杂志2011，27，11： | 1 |
| 6 | 食管鳞癌3、8、10、20和Y染色体的非整倍性分析显示文摘食管鳞状细胞癌(Esophageal squamous cell carcinoma,ESCC)的临床诊断和治疗方案虽经不断改进,但是总体5年生存率仍然较低。文章应用间期细胞核荧光原位杂交(Fluorescence in situ hybridization,FISH)技术,对220例食管鳞癌组织标本的3、8、10、20和Y染色体进行检测,分析其与临床病理参数之间的相关性。发现所测常染色体在食管癌组织中均存在较高的数目畸变率,主要表现为染色体增益,包括三体、四体及多体。4条常染色体3、8、10和20号染色体增益率分别为84.9%、77.5%、63.7%和83.2%,其中多体率各为24.6%、34.9%、23.4%和31.7%。Y染色体在61.2%的男性患者表现缺失。3、8、10和20号探针联合检测食管癌的阳性率为74.5%,3、8、20和Y染色体探针联合检测男性食管癌的阳性率为85.0%。这些结果提示3、8、10和20号染色体的探针组合和3、8、20和Y染色体探针组合有可能用于食管癌的辅助诊断,且在诊断男性食管癌病例时后者优于前者。 | 康维 姚汉清 房丽丽 蔡岩 韩亚铃 徐昕 张钰 贾雪梅 王明荣 | 2009 | 遗传2009，31，3： | 1 |
| 7 | Alteration in gene expression profile and oncogenicity of esophageal squamous cell carcinoma by RIZ1 upregulation显示文摘AIM:To investigate the effect of retinoblastoma protein-interacting zinc finger gene 1(RIZ1)upregulation in gene expression profile and oncogenicity of human esophageal squamous cell carcinoma(ESCC)cell line TE13.METHODS:TE13 cells were transfected with pcDNA3.1(+)/RIZ1 and pcDNA3.1(+).Changes in gene expression profile were screened and the microarray results were confirmed by reverse transcriptionpolymerase chain reaction(RT-PCR).Nude mice were inoculated with TE13 cells to establish ESCC xenografts.After two weeks,the inoculated mice were randomly divided into three groups.Tumors were injected with normal saline,transfection reagent pcDNA3.1(+)and transfection reagent pcDNA3.1(+)/RIZ1,respectively.Tumor development was quantified,and changes in gene expression of RIZ1 transfected tumors were detected by RT-PCR and Western blotting.RESULTS:DNA microarray data showed that RIZ1transfection induced widespread changes in gene expression profile of cell line TE13,with 960 genes upregulated and 1163 downregulated.Treatment of tumor xenografts with RIZ1 recombinant plasmid significantly inhibited tumor growth,decreased tumor size,and increased expression of RIZ1 mRNA compared to control groups.The changes in gene expression profile were also observed in vivo after RIZ1 transfection.Most of the differentially expressed genes were associated with cell development,supervision of viral replication,lymphocyte costimulatory and immune system development in esophageal cells.RIZ1 gene may be involved in multiple cancer pathways,such as cytokine receptor interaction and transforming growth factor beta signaling.CONCLUSION:The development and progression of esophageal cancer are related to the inactivation of RIZ1.Virus infection may also be an important factor. | Shang-Wen Dong Dong Li Cong Xu Pei Sun Yuan-Guo Wang Peng Zhang | 2013 | World Journal of Gastroenterology2013，19，37： | 0 |
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