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中国染色体蛋白质组计划研究进展 被引量:1
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作者 彭雪辉 苏纳 +1 位作者 李宗桃 徐平 《生命科学》 CSCD 2016年第9期1054-1066,共13页
人类染色体蛋白质组计划(Chromosome-Centric Human Proteome Project,C-HPP)是由人类蛋白质组组织(Human Proteome Organization,HUPO)于2010年9月在悉尼召开的第九届国际蛋白质组学大会上正式提出的大型国际合作计划。与生理-病理驱... 人类染色体蛋白质组计划(Chromosome-Centric Human Proteome Project,C-HPP)是由人类蛋白质组组织(Human Proteome Organization,HUPO)于2010年9月在悉尼召开的第九届国际蛋白质组学大会上正式提出的大型国际合作计划。与生理-病理驱动的人类蛋白质组计划(Biology/Disease-driven HPP,B/D-HPP)相同,C-HPP是人类蛋白质组计划(Human Proteome Project,HPP)的主要工作,将由中国、美国、澳大利亚、瑞士、意大利等17个国家的25个研究团队共同合作,旨在10年内(2012.09—2022.09)完成人类24条染色体和线粒体上蛋白质编码基因产物本身及其修饰产物的检测、验证和确认,注销可能过度注释的编码基因,绘制基因图谱并实现人类基因组的重注释。国内军事医学科学院的贺福初院士和徐平教授、复旦大学的杨芃原教授、华大基因的刘斯奇教授和暨南大学的何庆瑜教授,以及台湾地区的陈玉如教授分别领衔承担了人类第1号、8号、20号和第4号染色体上蛋白质编码基因的研究任务。综述了我国承担的C-HPP工作的策略和进展,并提出展望。 展开更多
关键词 人类染色体蛋白质组计划 1号染色体 8号染色体 20号染色体 4号染色体
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细胞周期素D1、视网膜母细胞瘤样蛋白2及微小染色体维持蛋白7在肝细胞癌中的表达及对预后的意义 被引量:14
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作者 刘娟 殷飞 姚树坤 《中国病理生理杂志》 CAS CSCD 北大核心 2011年第2期304-309,共6页
目的:研究细胞周期素D1(cyclin D1)、视网膜母细胞瘤样蛋白2(RBL2/p130)及微小染色体维持蛋白7(MCM7)在肝细胞癌(以下简称肝癌)中的表达及对预后诊断的意义。方法:用免疫组织化学法检测44例肝癌组织、26例癌旁硬化肝组织及18例正常肝组... 目的:研究细胞周期素D1(cyclin D1)、视网膜母细胞瘤样蛋白2(RBL2/p130)及微小染色体维持蛋白7(MCM7)在肝细胞癌(以下简称肝癌)中的表达及对预后诊断的意义。方法:用免疫组织化学法检测44例肝癌组织、26例癌旁硬化肝组织及18例正常肝组织中cyclin D1、RBL2/p130及MCM7的表达情况,并分析其与肝癌患者临床参数间的关系。结果:肝癌组织中cyclin D1和MCM7的阳性表达率分别是68.2%和72.7%,显著高于正常肝组织及癌旁硬化肝组织(P<0.01);RBL2/p130的阳性表达率为34.1%,显著低于正常肝组织及癌旁硬化肝组织(P<0.01),MCM7与cyclin D1的表达呈正相关(r=0.349,P<0.05),与RBL2/p130的表达呈负相关(r=-0.421,P<0.01);cyclin D1与RBL2/p130的表达呈负相关(r=-0.435,P<0.01)。Cyclin D1及MCM7的表达与肿瘤包膜的完整性、肿瘤分化程度及肝癌临床分期有关,RBL2/p130的表达与有无门脉癌栓、肿瘤分化程度及肝癌临床分期有关(P<0.05)。MCM7还与肿瘤大小及甲胎蛋白(AFP)值的大小有关。多因素分析显示肿瘤大小、MCM7及cyclin D1与肝癌预后相关(P<0.05)。MCM7及cyclin D1阳性表达的患者、RBL2/p130阴性表达的患者预后差(P<0.05)。结论:Cyclin D1、RBL2/p130和MCM7的异常表达在肝癌形成过程中发挥了重要作用。监测其在肝癌中的表达情况将有助于判断肝癌患者的预后。 展开更多
关键词 细胞周期蛋白D1 视网膜母细胞瘤样蛋白质 微小染色体维持蛋白质 肝肿瘤
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去泛素化酶USP29调控CBX6蛋白质稳定性 被引量:2
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作者 陈茂鹤 陈肖霞 +2 位作者 黄文洋 陈睿 林韩斌 《中国生物化学与分子生物学报》 CAS CSCD 北大核心 2021年第11期1474-1481,共8页
多梳家族(polycomb group,PcG)是一类控制细胞命运和胚胎发育的转录抑制因子,主要以转录抑制复合物(polycomb repressive complex,PRC)的形式发挥功能。染色体盒蛋白质同源物6(chromobox protein homolog 6,CBX6)是PRC1的核心蛋白质亚... 多梳家族(polycomb group,PcG)是一类控制细胞命运和胚胎发育的转录抑制因子,主要以转录抑制复合物(polycomb repressive complex,PRC)的形式发挥功能。染色体盒蛋白质同源物6(chromobox protein homolog 6,CBX6)是PRC1的核心蛋白质亚基之一,在基因表达调控、细胞更新分化、肿瘤发生发展和干细胞干性维持等方面发挥重要的作用。本研究发现,CBX6通过泛素-蛋白酶体依赖性途径降解,接着利用包含92个去泛素化酶(deubiquitinating enzyme,DUB)基因表达文库进行筛选,发现泛素特异性蛋白酶29(ubiquitin-specific protease,USP29)能够明显地稳定CBX6的蛋白质水平并延长其半衰期(P<0.05);免疫沉淀结果发现,CBX6通过其C-端结构域与USP29发生相互作用;进一步研究发现,USP29通过去泛素化CBX6调控CBX6蛋白质稳定性,且这个过程依赖于USP29本身去泛素化酶活性。细胞增殖结果还发现,USP29能抑制MCF7细胞的增殖(P<0.0001)。综上所述,本研究通过筛选发现,USP29能够通过去泛素化CBX6来稳定CBX6蛋白质水平,且USP29能够抑制MCF7细胞增殖进程。 展开更多
关键词 染色体蛋白质同源物6 泛素特异性蛋白酶29 去泛素化酶 蛋白质稳定性 细胞增殖
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SRS-淋巴瘤小鼠淋巴细胞活性染色质抗原特异性研究 被引量:3
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作者 钟叔平 温博贵 何开玲 《中国病理生理杂志》 CAS CSCD 北大核心 1994年第5期498-502,共5页
本文用SDS-PAGE分离正常及SRS-淋巴瘤小鼠淋巴细胞染色质NHCP,发现SRS-淋巴瘤细胞染色质存在130Kd,120Kd,110Kd,94Kd,57Kd肿瘤相关性NHCP两种染色质经DNaseⅠ有限度消化,优... 本文用SDS-PAGE分离正常及SRS-淋巴瘤小鼠淋巴细胞染色质NHCP,发现SRS-淋巴瘤细胞染色质存在130Kd,120Kd,110Kd,94Kd,57Kd肿瘤相关性NHCP两种染色质经DNaseⅠ有限度消化,优先被消化的活性染色质部位释放的蛋白不同。SRS-淋巴瘤细胞消化后释放的NHCP多于正常淋巴细胞,并具时相性差异。经多种免疫学方法证实,SRS-淋巴瘤NHCP具有肿瘤相关性,它的FLISA结果远高于正常淋巴细胞,SRS-淋巴瘤染色质有限度消化时NHCP释放的时相性变化,在ELISA中得到证实。免疫印迹结果表明:经正常染色质重吸收后的抗SRS-淋巴瘤染色质NHCP的抗血清与正常淋巴细胞染色质不显带,而与SRS-淋巴瘤细胞染色质显出多条阳性带,这些肿瘤相关性NHCP存在于不同处理的样品中。以上结果提示:SRS-淋巴瘤相关性NHCP位于活性染色质部位,它们可能是参与肿瘤基因表达的调控蛋白一反式作用因子。 展开更多
关键词 淋巴瘤 染色 染色体蛋白质 非组蛋白
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妇科生殖肿瘤淋巴细胞核仁区酸性非组蛋白表达
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作者 佘红纯 田亚芳 《郑州铁路职业技术学院学报》 2009年第4期45-47,共3页
目的:探讨外周T淋巴细胞银染核仁区酸性非组蛋白(Ag-nuclearorganized regions,Ag-NORs)的表达对妇科生殖肿瘤诊断和病情检测应用价值。方法:应用KL-2型图像分析系统及其配套细胞培养银染等试剂和方法,分析147名妇科生殖肿瘤患者和100... 目的:探讨外周T淋巴细胞银染核仁区酸性非组蛋白(Ag-nuclearorganized regions,Ag-NORs)的表达对妇科生殖肿瘤诊断和病情检测应用价值。方法:应用KL-2型图像分析系统及其配套细胞培养银染等试剂和方法,分析147名妇科生殖肿瘤患者和100名健康人外周血T淋巴细胞Ag-NORs面积与核面积的比值(IS%),并进行比较研究。结果:恶性肿瘤与健康人和非恶性肿瘤外周血T淋巴细胞Ag-NORs比较,差异有显著性(P<0.05)。在健康人和非恶性疾病中T淋巴细胞Ag-NORs检测的平均IS%值分别为(7.79±0.70)%和(7.81±0.71)%,差异无显著性(P>0.05),恶性肿瘤患者IS%均值为(5.37±0.81)%,不同肿瘤及肿瘤患者不同临床时期IS%值小于6%比例为63.0-92.0%;于CA1125等肿瘤标志物比较,检测T淋巴细胞Ag-NORs具有更高的诊断符合率。结论:外周血T淋巴细胞Ag-NORs可以作为妇科恶性肿瘤的诊断和病情检测的指标。 展开更多
关键词 染色体蛋白质 非组蛋白 淋巴细胞 肿瘤
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全血锌原子吸收光谱微量检测法的实验观察
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作者 徐腊香 刘芳 李志鹏 《医学临床研究》 CAS 1997年第S1期25-26,共2页
人体微量元素锌具有重要的生理作用,是人体红细胞碳酸酐酶的必需成份,其含量约占0.33%;是维持RNA多聚酶活性的微量元素,与染色体蛋白质,DNA复制相关的G32P蛋白质的转录相关的TFlllA蛋白功能完整性密切相关;锌还是人体生长发育等功能的... 人体微量元素锌具有重要的生理作用,是人体红细胞碳酸酐酶的必需成份,其含量约占0.33%;是维持RNA多聚酶活性的微量元素,与染色体蛋白质,DNA复制相关的G32P蛋白质的转录相关的TFlllA蛋白功能完整性密切相关;锌还是人体生长发育等功能的必需微量元素.它不能在体内自然合成.其含量的改变常与某些疾病相关,其缺乏常导致儿童智力发育不全,生长发育缓慢,呼吸道反复感染及消化道疾病如慢性腹泻、食欲不振.作者等随机采取2157例样本应用原子吸收光谱法测定微量全血锌.现报道如下. 展开更多
关键词 原子吸收光谱 微量检测法 实验观察 微量全血锌 吸光度 必需微量元素 染色体蛋白质 呼吸道反复感染 生长发育 慢性腹泻
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Effect of Two Herbicides on the Growth of Early Seedlings of Rye(Secale cereale) 被引量:2
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作者 党晨 高越 《Agricultural Science & Technology》 CAS 2011年第8期1213-1216,共4页
[Objective]The aim was to study the effect of herbicide on the growth of early seedlings of rye(Secale cereale).[Method]Effect of two kinds of herbicide(Atrazine and APM)on seedling growth of rye was investigated ... [Objective]The aim was to study the effect of herbicide on the growth of early seedlings of rye(Secale cereale).[Method]Effect of two kinds of herbicide(Atrazine and APM)on seedling growth of rye was investigated at the physiological,biochemical and cellular level.[Result]The Atrazin significantly decreased the contents of chlorophyll a,b and soluble proteins.Rye seeds were treated with 0.01-1 mg/L Atrazine for 16 h,the contents of chlorophyll a and b decreased from 1.26(a),0.49(b)mg/g FW(control)to 1.15(a),0.46(b)mg/g FW(0.1 mg/L)and 0.81(a),0.33(b)mg/g FW(1.0 mg/L).The content of soluble protein decreased with the increasing concentration of Atrazin.Atrazin had no significant influence on the cell division and chromosome structure variation.The contents of chlorophyll a,b and soluble proteins had no significantly change under the treatment of APM,but the number of chromosome structure variation such as chromosome bridge,multipolar division cells,lagging chromosome and unequal division cells increased significantly.[Conclusion]The critical concentration of Atrazine was 0.1-1.0 mg/L and 4 mg/L of APM in rye. 展开更多
关键词 HERBICIDES Secale cereal Chlorophyll content Soluble protein Chromosome structure variation
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Smad3 mediates immediate early induction of Idl by TGF-β 被引量:5
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作者 Yao-Yun Liang F Charles Brunicardi Xia Lin 《Cell Research》 SCIE CAS CSCD 2009年第1期140-148,共9页
Idl is a member of the inhibitor of differentiation (Id) protein family that regulates a wide range of cell functions. Previous studies have shown that expression of the Idl gene is down-regulated by TGF-β in epith... Idl is a member of the inhibitor of differentiation (Id) protein family that regulates a wide range of cell functions. Previous studies have shown that expression of the Idl gene is down-regulated by TGF-β in epithelial cells, whereas it is up-regulated by BMP in a variety of cell types. During our study of the biological function of TGF-β1, we found that Idl can be strongly up-regulated by TGF-β1 in the human mammary gland epithelial cell line MCF10A. Quantitative real-time RT-PCR has revealed as high as 7.5-fold induction ofldl mRNA by TGF-β1 in MCF10A cells after 1 h of TGF-β1 stimulation, and this induction does not require de novo protein synthesis. Using Smad knockdown and knockout approaches, we have identified Smad3 as the responsible R-Smad for mediating transcriptional activation of the Idl gene. Chromatin immunoprecipitation assay confirms that Smad3 and Smad4 bind to the upstream region of the Idl gene. Our results demonstrate that Smad3, but not Smad2, mediates TGF-β1-dependent early transcriptional induction of Idl. 展开更多
关键词 TGF-β signaling Idl transcription SMAD CHROMATIN
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Mitosin/CENP-F is a conserved kinetochore protein subjected to cyto plasmic dynein-mediated poleward transport 被引量:11
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作者 ZHEN YE YANG, JING GUO, NING LI, MIN QIAN, SHENG NIAN WANG, XUE LIANG ZHULaboratory of Molecular Cell Biology, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yueyang Road, Shanghai 200031, China 《Cell Research》 SCIE CAS CSCD 2003年第4期275-283,共9页
Mitosin/CENP-F is a human nuclear protein transiently associated with the outer kinetochore plate in M phase and is involved in M phase progression. LEK1 and CMF1, which are its murine and chicken orthologs, however, ... Mitosin/CENP-F is a human nuclear protein transiently associated with the outer kinetochore plate in M phase and is involved in M phase progression. LEK1 and CMF1, which are its murine and chicken orthologs, however, are implicated in muscle differentiation and reportedly not distributed at kinetochores.We therefore conducted several assays to clarify this issue. The typical centromere staining patterns were observed in mitotic cells from both human primary culture and murine, canine, and mink cell lines. A C-terminal portion of LEK1 also conferred centromere localization. Our analysis further suggests conserved kinetochore localization of mammalian mitosin orthologs. Moreover, mitosin was associated preferentially with kinetochores of unaligned chromosomes. It was also constantly transported from kinetochores to spindle poles by cytoplasmic dynein. These properties resemble those of other kinetochore proteins important for the spindle checkpoint, thus implying a role of mitosin in this checkpoint. Therefore, mitosin family may serve as multifunctional proteins involved in both mitosis and differentiation. 展开更多
关键词 mitosin LEKl CENP-F kinetochore.
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Genome-wide differences in hepatitis C-vs alcoholism-associated hepatocellular carcinoma 被引量:1
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作者 Céline Derambure Cédric Coulouarn +11 位作者 Frédérique Caillot Romain Daveau Martine Hiron Michel Scotte Arnaud Franois Celia Duclos Odile Goria Marie Gueudin Catherine Cavard Benoit Terris Maryvonne Daveau Jean-Philippe Salier 《World Journal of Gastroenterology》 SCIE CAS CSCD 2008年第11期1749-1758,共10页
AIM:To look at a comprehensive picture of etiology- dependent gene abnormalities in hepatocellular carcinoma in Western Europe. METHODS:With a liver-oriented microarray,transcript levels were compared in nodules and c... AIM:To look at a comprehensive picture of etiology- dependent gene abnormalities in hepatocellular carcinoma in Western Europe. METHODS:With a liver-oriented microarray,transcript levels were compared in nodules and cirrhosis from a training set of patients with hepatocellular carcinoma (alcoholism,12;hepatitis C,10)and 5 controls.Loose or tight selection of informative transcripts with an abnormal abundance was statistically valid and the tightly selected transcripts were next quantified by qRTPCR in the nodules from our training set(12+10) and a test set(6+7). RESULTS:A selection of 475 transcripts pointed to significant gene over-representation on chromosome 8 (alcoholism)or-2(hepatitis C)and ontology indicated a predominant inflammatory response(alcoholism)or changes in cell cycle regulation,transcription factors and interferon responsiveness(hepatitis C).A stringent selection of 23 transcripts whose differences betweenetiologies were significant in nodules but not in cirrhotic tissue indicated that the above dysregulations take place in tumor but not in the surrounding cirrhosis.These 23 transcripts separated our test set according to etiologies. The inflammation-associated transcripts pointed to limited alterations of free iron metabolism in alcoholic vs hepatitis C tumors. CONCLUSION:Etiology-specific abnormalities(chromo- some preference;differences in transcriptomes and related functions)have been identified in hepatocellular carcinoma driven by alcoholism or hepatitis C.This may open novel avenues for differential therapies in this disease. 展开更多
关键词 ALCOHOLISM CHROMOSOME CIRRHOSIS Hepatitis C TRANSCRIPTOMES Protein function
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Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation 被引量:1
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作者 Ramón Peces Joost PH Drenth +2 位作者 Rene HM te Morsche Pedro González Carlos Peces 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第48期7690-7693,共4页
Polycystic liver disease (PLD) is characterized by the presence of multiple bile duct-derived epithelial cysts scattered in the liver parenchyma. PLD can manifest itself in patients with severe autosomal dominant poly... Polycystic liver disease (PLD) is characterized by the presence of multiple bile duct-derived epithelial cysts scattered in the liver parenchyma. PLD can manifest itself in patients with severe autosomal dominant polycystic kidney disease (ADPKD). Isolated autosomal dominant polycystic liver disease (ADPLD) is genetically distinct from PLD associated with ADPKD, although it may have similar pathogenesis and clinical manifestations.Recently, mutations in two causative genes for ADPLD,independently from ADPKD, have been identified. We report here a family (a mother and her daughter) with a severe form of ADPLD not associated with ADPKD produced by a novel missense protein kinase C substrate 80K-H (PRKCSH) mutation (R281W). This mutation causes a severe phenotype, since the two affected subjects manifested signs of portal hypertension. Doppler sonography, computed tomography (CT) and magnetic resonance (MR) imaging are effective in documenting the underlying lesions in a non-invasive way. 展开更多
关键词 ADPLD Hepatic cysts Hepatocystin Inferior vena cava compression Polycystic liver disease Portal hypertension
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Hepatitis B virus infection and the risk of hepatocellular carcinoma 被引量:25
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作者 Ya-Jun Tan 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第44期4853-4857,共5页
Epidemiological studies have provided overwhelming evidence for a causal role of chronic hepatitis B virus(HBV) infection in the development of hepatocellular carcinoma(HCC).However,the pathogenesis of HBV infection a... Epidemiological studies have provided overwhelming evidence for a causal role of chronic hepatitis B virus(HBV) infection in the development of hepatocellular carcinoma(HCC).However,the pathogenesis of HBV infection and carcinogenesis of HBV-associated HCC are still elusive.This review will summarize the current knowledge on the mechanisms involved in HBV-related liver carcinogenesis.The role of HBV in tumor formation appears to be complex,and may involve both direct and indirect mechanisms.Integration of HBV DNA into the host genome occurs at early steps of clonal tumor expansion,and it has been shown to enhance the host chromosomal instability,leading to large inverted duplications,deletions and chromosomal translocations.It has been shown that the rate of chromosomal alterations is increased significantly in HBV-related tumors.Prolonged expression of the viral regulatory HBV x protein may contribute to regulating cellular transcription,protein degradation,proliferation,and apoptotic signaling pathways,and it plays a critical role in the development of hepatocellular carcinoma. 展开更多
关键词 Hepatocellular carcinoma Hepatitis B virus infection Hepatitis B virus genotypic variations Hepatitis B virus x protein
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T淋巴细胞核仁区酸性非组蛋白在肿瘤诊断与监测中的价值 被引量:25
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作者 刘广贤 孔宪涛 +4 位作者 张婧 胡小电 吴世凯 乔建辉 裴素秋 《中华检验医学杂志》 CAS CSCD 北大核心 2001年第3期151-153,共3页
目的 探讨检测T淋巴细胞核仁形成区 (NORs)酸性非组蛋白对肿瘤诊断和病情监测的应用价值。方法 应用普通细胞银染技术对体外激活的患者外周血淋巴细胞染色 ,通过计算机显微图像分析技术 ,计算硝酸银染色酸性非组蛋白 (Ag) NORs面积... 目的 探讨检测T淋巴细胞核仁形成区 (NORs)酸性非组蛋白对肿瘤诊断和病情监测的应用价值。方法 应用普通细胞银染技术对体外激活的患者外周血淋巴细胞染色 ,通过计算机显微图像分析技术 ,计算硝酸银染色酸性非组蛋白 (Ag) NORs面积与核面积的比值 (IS % ) ,对 10 46名健康体检人员、393例非恶性疾病患者和 70 6例各种肿瘤患者进行了对比研究。结果 发现恶性疾病与健康人和非恶性疾病患者之间 ,T淋巴细胞Ag NORs活性差异有显著意义 (P <0 0 5 )。在正常人和非恶性疾病中 ,T淋巴细胞Ag NORs检测的平均IS %值分别为 (7 81± 0 6 9) %和 (7 85± 0 72 ) % ,其中IS %值大于 6 %的比例分别为 99 8%和 94 7% ,两者差异无显著意义 (P >0 0 5 )。恶性肿瘤患者IS %均值为 (5 17± 0 87) % ;不同肿瘤及肿瘤患者不同临床时期 ,IS %值小于 6 %的比例为 6 0 %~ 92 3% ;不同肿瘤之间比较 ,结直肠癌及乳腺癌与其他肿瘤之间差异有显著意义 (P <0 0 5 ) ,而其他肿瘤之间差异无显著意义。与癌胚抗原 (CEA)、甲胎蛋白 (AFP)等肿瘤标志物比较 ,T淋巴细胞Ag NORs检测具有更高的诊断符合率 (2 6~ 92 3% )。结论 T淋巴细胞Ag NORs检测 ,在肿瘤诊断。 展开更多
关键词 染色体蛋白质 非组蛋白 图像处理 计算机辅助 肿瘤 淋巴细胞
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颅内肿瘤淋巴细胞核仁区酸性非组蛋白的表达 被引量:2
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作者 曹勇 索凤霜 +2 位作者 赵继宗 王辉元 罗麟 《中华检验医学杂志》 CAS CSCD 北大核心 2001年第3期154-155,共2页
目的 探讨颅内肿瘤患者外周血T淋巴细胞银染核仁区酸性非组蛋白 (Ag NORs)表达特点。方法 应用KL 2图像分析系统及其配套细胞培养银染等试剂和方法 ,分析 47例颅内良性和恶性肿瘤患者外周血淋巴细胞Ag NORs的表达 ,并与 40名健康人和... 目的 探讨颅内肿瘤患者外周血T淋巴细胞银染核仁区酸性非组蛋白 (Ag NORs)表达特点。方法 应用KL 2图像分析系统及其配套细胞培养银染等试剂和方法 ,分析 47例颅内良性和恶性肿瘤患者外周血淋巴细胞Ag NORs的表达 ,并与 40名健康人和 32例其他系统恶性肿瘤相比较。结果 颅内良性肿瘤组患者Ag NORs表达降低 ,平均值为 (6 .42± 0 .16 ) % ,与健康人相比差异有非常显著意义 ;颅内恶性肿瘤组患者降低更明显 [平均值 (5 .73± 0 .2 2 ) % ],与良性组相比差异有显著意义 ;其他系统恶性肿瘤组患者平均值 [(3.6 8± 0 .19) % ]比颅内恶性肿瘤组降低更加明显 ,差异有非常显著意义。结论 外周血T淋巴细胞Ag NORs可以作为标记颅内肿瘤的参考指标。 展开更多
关键词 淋巴细胞 染色体蛋白质 非组蛋白 颅内肿瘤 AG-NORS
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26例不典型Rett综合征MECP2基因的突变分析 被引量:6
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作者 李美蓉 潘虹 +3 位作者 包新华 张玉稚 姜胜玲 吴希如 《中华儿科杂志》 CAS CSCD 北大核心 2006年第4期285-288,共4页
目的了解不典型Rett综合征患儿MECP2基因的突变频率、突变类型、是否存在突变热点,寻找基因型和表型的相互关系。方法取26例不典型Rett综合征患儿外周静脉抗凝血,采用Miller′s蛋白酶K氯化钠盐析法提取基因组DNA,采用PCR方法扩增MECP2... 目的了解不典型Rett综合征患儿MECP2基因的突变频率、突变类型、是否存在突变热点,寻找基因型和表型的相互关系。方法取26例不典型Rett综合征患儿外周静脉抗凝血,采用Miller′s蛋白酶K氯化钠盐析法提取基因组DNA,采用PCR方法扩增MECP2基因的外显子及结合区,1%的琼脂糖凝胶电泳鉴定目的PCR产物,然后进行DNA直接测序。DNA测序结果与人基因组序列(GeneBankAF030876)比较。结果26例不典型Rett综合征患儿中有12例存在突变。突变类型包括错义突变,由于单个碱基缺失导致的移码突变和剪切位点的突变,其中错义突变为最常见类型。c·397C>T为3例,c·473C>T、c·916C>T、c·806delG各为2例,c·397A>G、c·1005G>A、c·IVS2-2A>T各为1例。结论不典型Rett综合征患儿存在MECP2基因突变,R133C、T158M和R306C为其热点突变。基因突变类型和表型之间有一定的相关性。 展开更多
关键词 RETT综合征 染色体蛋白质 非组蛋白 DNA结合蛋白质 阻遏蛋白质
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长片段PCR-DNA测序方法在Rett综合征诊断中的应用
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作者 李美蓉 潘虹 +2 位作者 包新华 曹广娜 吴希如 《中华儿科杂志》 CAS CSCD 北大核心 2007年第8期579-582,共4页
目的探讨利用长片段 PCR-DNA 测序方法检测 Rett 综合征(RTT)患儿 MECP2基因突变的可行性及临床意义。方法对40例临床诊断的 RTT 患儿用盐析法从外周血提取基因组DNA,采用长片段 PCR 同时扩增 MECP2基因的第3和第4外显子,用1.5%的琼脂... 目的探讨利用长片段 PCR-DNA 测序方法检测 Rett 综合征(RTT)患儿 MECP2基因突变的可行性及临床意义。方法对40例临床诊断的 RTT 患儿用盐析法从外周血提取基因组DNA,采用长片段 PCR 同时扩增 MECP2基因的第3和第4外显子,用1.5%的琼脂糖凝胶鉴定扩增目的片段的大小,进行 DNA 直接测序。结果在40例 RTT 患儿中有33例患儿 MECP2基因存在突变:无义突变16例;错义突变14例;缺失突变3例,其中有一例为314 bp 的大片段基因缺失。突变以p.T158M 最为多见,占21%(7/33),其后依次为 p.R255X,占12%(4/33),p.R168X 和p.R106W 各占9%(3/33),p.R270X 和 p.Y141X 各占6%(2/33),p.R133C、p.D156H、p.F157L、p.P225R、p.Q244X、p.Q262X、p.R294X、p.R306C、P322L、c.1005delG、c.1005-1318del 314 bp 和 c.1127-1179del 53bp 各占3%(1/33)。结论长片段 PCR 方法鉴定了83%(33/40)的 RTT 患儿存在 MECP2基因突变,目前是一种简单、方便、快速、准确的基因诊断方法,能同时发现常见突变和基因大片段的缺失,有助于 RTT 的诊断。 展开更多
关键词 RETT综合征 聚合酶链反应 染色体蛋白质 非组蛋白 DNA结合蛋白质 阻遏蛋白质 突变
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利用GEO公共数据集分析CHAF1A在肿瘤中的表达及临床意义 被引量:2
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作者 李雪玲 丁明彦 +5 位作者 孙荣泽 王琪 曲川 孟冉冉 周光明 丁千山 《肿瘤》 CAS CSCD 北大核心 2014年第7期642-650,共9页
目的 :研究染色体组装因子1单位A(chromatin assembly factor 1,subunit A,CHAF1A)在人体多种肿瘤中的表达情况,探讨CHAF1A与肝细胞癌、乳腺癌和肺癌临床病理特征的关系,并评价检测CHAF1A表达对肝细胞癌、乳腺癌和肺癌预后评估的意义。... 目的 :研究染色体组装因子1单位A(chromatin assembly factor 1,subunit A,CHAF1A)在人体多种肿瘤中的表达情况,探讨CHAF1A与肝细胞癌、乳腺癌和肺癌临床病理特征的关系,并评价检测CHAF1A表达对肝细胞癌、乳腺癌和肺癌预后评估的意义。方法 :从美国国立生物技术信息中心(National Center for Biotechnology Information,NCBI)网站收集与CHAF1A表达及人类肿瘤相关的基因表达汇编(Gene Expression Omnibus,GEO)公共数据集,下载这些肿瘤样本表达谱资料及其对应的临床信息。采用χ2检验分析CHAF1A表达与肿瘤患者临床病理指标的相关性,Kaplan-Meier法进行总生存和无复发生存期分析。采用基因集富集分析(gene set enrichment analysis,GSEA)方法分析预测受CHAF1A调控的相关基因。结果 :CHAF1A在肝细胞癌、结直肠癌、食管癌、肺癌、卵巢癌、黑素瘤、鼻咽癌和胃癌中均高表达(P<0.05)。CHAF1A表达与乳腺癌患者的p53基因缺失、p53基因突变、雌激素受体表达、孕激素受体表达以及Elston组织学分级密切相关(P<0.05),与肺癌患者的年龄、性别、T分期、淋巴结浸润和远端转移密切相关(P<0.05),而在肝细胞癌、乳腺癌和肺癌中与患者手术预后相关(P<0.05)。CHAF1A可能调控与细胞周期调控、DNA复制以及细胞骨架调节相关的基因集。结论 :CHAF1A在多种肿瘤中高表达,推测其可以作为潜在的判断肿瘤患者预后的标志物以及治疗肿瘤的靶标。 展开更多
关键词 肿瘤 数据库 蛋白质 染色体蛋白质 非组蛋白 基因表达 CHAF1A
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Histone variants: the artists of eukaryotic chromatin 被引量:4
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作者 LI Min FANG YuDa 《Science China(Life Sciences)》 SCIE CAS CSCD 2015年第3期232-239,共8页
The eukaryotic genome is packaged into a complex nucleoprotein structure named chromatin, balancing the compactness of genome and the accessibility of regulatory proteins and RNA polymerases to DNA. The mechanisms of ... The eukaryotic genome is packaged into a complex nucleoprotein structure named chromatin, balancing the compactness of genome and the accessibility of regulatory proteins and RNA polymerases to DNA. The mechanisms of the regulation of chromatin dynamics include the post-translational modification of histones, alteration of nucleosome positions by chromatin remodelers, replacement of canonical histones by histone variants with the aid of histone chaperones, and dynamic organization of the three-dimensional genome in the small nucleus. Histone variants are different from canonical histones by substitution of several amino acid residues or changes in amino acid sequence. Histone variants perform specialized functions such as altering nucleosome stability, dynamics, structure, as well as playing critical roles in a range of biological processes like transcriptional regulation, DNA repair and recombination, development and immune responses. Here we discuss how histone variants, their modification and specific loading to chromatin are involved in transcriptional regulation, DNA repair and plant development. 展开更多
关键词 histone variants histone modification gene regulation DNA repair stress responsiveness
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Origin of new genes after zygotic genome activation in vertebrate 被引量:1
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作者 Hai-Bo Xu Yong-Xin Li +4 位作者 Yan Li Newton O. Otecko Ya-Ping Zhang Bingyu Mao Dong-Dong Wu 《Journal of Molecular Cell Biology》 SCIE CAS CSCD 2018年第2期139-146,共8页
New genes are drivers of evolutionary innovation and phenotypic evolution. Expression of new genes in early development raises the possibility that new genes could originate and be recruited for functions in embryonic... New genes are drivers of evolutionary innovation and phenotypic evolution. Expression of new genes in early development raises the possibility that new genes could originate and be recruited for functions in embryonic development, but this remains undocu- mented. Here, based on temporal gene expression at different developmental stages in Xenopus tropicolis, we found that young protein-coding genes were significantly enriched for expression in developmental stages occurring after the midblastula trans- ition (MBT), and displayed a decreasing trend in abundance in the subsequent stages after MBT. To complement the finding, we demonstrate essential functional attributes of a young orphan gene, named as Fog2, in morphological development. Our data indicate that new genes could originate after MBT and be recruited for functions in embryonic development, and thus provide insights for better understanding of the origin, evolution, and function of new genes. 展开更多
关键词 young gene evolution zygotic genome activation new gene origin
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