特异性染色体易位相关与非相关软组织肉瘤间p53突变的比较研究

研究特异性染色体易位相关与非相关软组织肉瘤间p53突变情况及差异。选取软组织肉瘤样本82例,其中特异性染色体易位相关软组织肉瘤样本40例特异性染色体易位非相关软组织肉瘤样本42例;运用PCR-SSCP和DNA序列测定的方法检测p53基因突变。在82例软组织肉瘤中共检测出22例p53基因突变,其突变率为26.8%（22/82）。40例特异性染色体易位相关型软组织肉瘤中发现6例p53基因突变,其突变率为15%（6/40）;42例特异性染色体易位非相关型软组织肉瘤中发现16例p53基因突变,其突变率为38.1%（16/42）。二类软组织肉瘤p53基因突变有差异,PCR-SSCP技术是筛选大宗标本基因结构微小改变的好方法。     

利用酵母功能检测技术筛选肝癌组织p53基因显性负抑制效应突变体

p5 3突变体的显性负抑制效应(dominant negative effect)是指突变型p5 3蛋白抑制细胞内野生型p5 3蛋白发挥正常功能的一种特性,是肿瘤发生的重要原因之一.利用酵母中分离的等位基因功能分析技术(functional analysis of separated alleles in yeast,FASAY)建立了一种简便稳定的p5 3突变体显性负抑制效应检测和筛选方法,并应用于检测2 8例原发性肝癌组织(HCC)样本的p5 3单点突变体,发现了1 2例为显性负抑制效应突变体,其中突变位点Met2 4 6Val为首次报道具有显性负抑制效应.进一步分析这些突变p5 3蛋白的结构,发现这些具有显性负抑制效应的突变位点大多位于p5 3蛋白表面与DNA特异性序列相互作用的区域.     

头颈部鳞癌中p53-mdm2基因异常的研究

目的:检测头颈部鳞癌患者p53基因突变、mdm2基因扩增的状况,了解其与头颈部鳞癌患者的性别、鳞癌分级、淋巴结转移等的相关性及两异常基因的相关性。方法:收集50例行手术切除的头颈部鳞癌患者的新鲜肿瘤组织及其相应的癌旁正常组织,提取标本DNA;用PCR-SS-CP-银染法检测p53基因第5~8外显子的突变状况;用dPCR法检测mdm2基因扩增情况;采用SPSS 10.0统计软件包行2检验分析实验结果。结果:在50例头颈部鳞癌患者标本中,检测出17例存在p53基因突变,突变率为34%,所有的癌旁正常组织未发现p53基因突变;在50例鳞癌标本中检测出6例标本存在mdm2基因扩增,扩增率为12%,其中有一例同时存在p53基因突变;p53基因突变、mdm2基因扩增与患者的鳞癌分级、淋巴结转移、性别等相关性分析结果均无统计学意义(P>0.05)。结论:p53基因突变与mdm2基因扩增在头颈部鳞癌中较常见,可能是头颈部鳞癌发生发展的主要分子机制。     

甲状腺癌组织中H-ras基因突变及蛋白表达的预后价值

对54例甲状腺癌标本分别用PCR-RFLP法检测H-ras基因第12位密码子的突变及免疫组化法检测p21ras蛋白,并用时序捡测分析ras基因突变和p21ras蛋白表达与甲状腺癌的关系.结果发现,甲状腺癌中18例(33.3%)有ras基因突变和49例(90.7%)有p21ras蛋白过度表达.临床分期晚、分化程度低的甲状腺癌突变率较高,具有H-ras原癌基因突变和p21ras蛋白阳性的病例有较高的复发率和死亡率.表明ras基因突变及其蛋白过度表达在甲状腺癌的发生和发展过程中发挥作用,是预后不良的标志.     

慢性粒细胞白血病急变与bcr／abl，p53,p16基因相关性研究

应用RT-PCR、PCR-SSCP方法对33例慢性粒细胞白血病（Chronic myeloid leukemia,CML）进行了bcr/abl,p53,p16基因检测，发现33例CML中32例bcr/abl基因阳性（97.0%）。22例慢性期无p53基因突变，而11例急变组中一例外显子5和一例外显子7发生p53基因突变，且均发生于急粒变组，2例出现p16基因纯合缺失，且均发生在急淋变组，33例CML均未见p16基因突变，结果提示：bcr/abl基因与CML发生有关，而p53基因突变可能与CML急粒变有关，p16纯合缺失可能与CML急淋变有关。     

32例肿瘤组织中p53基因突变的PCR-SSCP、银染色检测

目的　检测肿瘤组织中 p5 3基因的突变率 ,探索其在肿瘤发展过程中的作用 .建立PCR SSCP检测 p5 3突变的常规方法 .方法　检测 32例癌组织和癌旁组织 .用盐沉淀制备样品DNA ,以p5 3基因exon7设计引物 ,用PCR SSCP结合银染色显示结果 .结果　 32例肿瘤标本检出阳性 9例 ,阳性率 2 8.1% .4例癌组织和癌旁组织均为阳性 .其中 2 2例胃癌 ,检出 4例阳性 (占 18.2 % ) ,双阳性者 2例 .结论　p5 3基因突变在肿瘤中具有普遍性 ,癌组织和癌旁组织双阳性者 ,与肿瘤的扩散有关 .该检测方法简便易行 ,有助于对 p5 3基因突变的扫描检测 .     

全外显子测序技术在Waardenburg综合征家系致病基因突变分析中的应用

本研究旨在对一例Waardenburg综合征患者的临床症状和致病基因的分析。我们获取患者的临床信息以及全血样本,利用全外显子测序技术,确定PAX3基因在c.873dupc发生突变,该突变位于6号外显子上,导致氨基酸改变p.G272fs。对患者和患者父母进行一代测序验证,发现父母未发生此突变,且无临床症状;该突变在中国人群中为首次报道,对临床诊断有一定的遗传指导意义。     

慢性粒细胞性白血病不同病期bcr-abl基因 P53基因突变研究

探讨 bcr- abl融合基因、P53 基因对 CML不同病期演变的作用 .采取 CML2 6例不同分期共30份标本 ,应用逆转录—聚合酶链反应 (RT- PCR)技术检测 bcr- abl融合基因 ,应用多聚酶变 .结果显示 2 4例 CML慢性期中 2 2例 bcr- abl基因 ( ) ,6例急变期中 5例 bcr- abl基因 ( ) ;CML慢性期未发现 P53 基因突变 (0 / 2 4 ) ,急变期发现 2例突变 (2 / 6 ) .2例 P53 基因突变中 ,1例 bcr- abl基因( ) ,1例 bcr- abl基因 (- ) .由此可得 P53 基因突变在 CML慢性期少见 ;P53 基因突变对部分 CML急变有一定作用     

人原发性肝癌中p16,p15基因CpG岛甲基化研究

目的　检测人原发性肝癌中 p16和 p15基因 5’启动子区CpG岛的异常甲基化 ,并分析其与人原发性肝癌发生发展的关系 ,探索其在临床早期基因诊断和治疗中的意义 .方法　用敏感的甲基化特异性PCR检测 2 0例人原发性肝癌患者癌组织、癌旁组织和远癌正常组织中p16 ,p15基因5’CpG岛的甲基化状况 ,统计分析这两个基因 5’CpG岛甲基化与肝癌病理特征的相关性 .结果　2 0例原发性肝癌肝癌组织中 p16和 p15基因 5’CpG岛分别有 6 5 %(13/2 0 )和 5 0 %(10 /2 0 )异常甲基化 ;癌旁组织中 p16和 p15基因 5’CpG岛分别有 6 0 %(12例 )和 4 0 %(8例 )异常甲基化 ;远癌正常组织中p16和 p15基因 5’CpG岛分别有 35 %(7例 )和 2 5 %(5例 )异常甲基化 .p16 ,p15基因 5’CpG岛甲基化在癌组织和癌组织旁、癌组织和远癌组织中均有相关性 .两个基因 5’CpG岛异常甲基化与临床病理特征无显著相关性 .结论　p16和 p15基因 5’CpG岛异常甲基化在人原发性肝癌中频率很高 ,可能在肝癌发生发展中扮演了重要角色 ;而...     

连接酶检测反应技术应用于乙型肝炎病毒拉米夫定耐药和阿德福韦耐药突变的研究

目的:研究高温连接酶检测反应技术(LDR)技术检测乙肝病毒拉米夫定耐药和阿德福韦耐药突变的可行性.方法:应用LDR技术和多聚酶链式反应(PCR)技术,在乙肝病毒基因相关区域设计引物和探针检测突变位点.结果:该方法能很好的区分野生型质粒和突变型质粒;90例临床样本的测序结果与LDR检测结果基本一致.结论:LDR技术可以应用于临床乙肝病毒样本的拉米夫定耐药和阿德福韦耐药的检测.     

Markedness and its Interpretation in Language Use

Language markedness is a common phenomenon in languages, and is reflected from hearing, vision and sense, i.e. the variation in the three aspects such as phonology, morphology and semantics. This paper focuses on the interpretation of markedness in language use following the three perspectives, i.e. pragmatic interpretation, psychological interpretation and cognitive interpretation, with an aim to define the function of markedness.     

Features of Women's language

Language is a means of verbal communication. People use language to communicate with each other. In the society, no two speakers are exactly alike in the way of speaking. Some differences are due to age, gender, statue and personality. Above all, gender is one of the obvious reasons. The writer of this paper tries to describe the features of women＇s language from these perspectives： pronunciation, intonation, diction, subjects, grammar and discourse. From the discussion of the features of women＇s language, more attention should be paid to language use in social context. What＇s more, the linguistic phenomena in a speaking community can be understood more thoroughly.     

低渗透非均质砂岩油藏启动压力梯度研究

理论推导与室内实验相结合,建立了低渗透非均质砂岩油藏启动压力梯度确定方法。首先借助油藏流场与电场相似的原理,推导了非均质砂岩油藏启动压力梯度计算公式。其次基于稳定流实验方法,建立了非均质砂岩油藏启动压力梯度测试方法。结果表明:低渗透非均质砂岩油藏的启动压力梯度确定遵循两个等效原则。平面非均质油藏的启动压力梯度等于各级渗透率段的启动压力梯度关于长度的加权平均;纵向非均质油藏的启动压力梯度等于各渗透率层的启动压力梯度关于渗透率与渗流面积乘积的加权平均。研究成果可用于有效指导低渗透非均质砂岩油藏的合理井距确定,促进该类油藏的高效开发。     

On Tragic Consciousness In The Works By Ernest Hemingway

As an American modern novelist who were famous in the literary world, Hemingway was not a person who always followed the trend but a sharp observer. At the same time, he was a tragedy maestro, he paid great attention on existence, fate and end-result. The dramatis personae's tragedy of his works was an extreme limit by all means tragedy on the meaning of fearless challenge that failed. The beauty of tragedy was not produced on the destruction of life, but now this kind of value was in the impact activity. They performed for the reader about the tragedy on challenging for the limit and the death.     

Achieving Unusual States of Matter Under High Pressure

正The periodicity of the elements and the non-reactivity of the inner-shell electrons are two related principles of chemistry,rooted in the atomic shell structure.Within compounds,Group I elements,for example,invariably assume the+1 oxidation state,and their chemical properties differ completely from those of the p-block elements.These general rules govern our understanding of chemical structures and reactions.Using first principles calcula-     

Exchange-Correlation and Electronic Excitation Energies from Pairing Matrix Fluctuations

We have developed an adiabatic connection to formulate the ground-state exchange-correlation energy in terms of pairing matrix linear fluctuations.This formulation of the exchange-correlation energy opens a new channel for density functional approximations based on the many-body perturbation theory.We illustrate the potential of such approaches with an approximation based on the particle-particle Random Phase Approximation(pp-RPA).This re-     

Density Functional Theory for the Response of Periodic Systems to Electric Fields Based on the Vector Potential Approach

正The electronic and nuclear(structural/vibrational)response of 1D-3D nanoscale systems to electric fields gives rise to a host of optical,mechanical,spectral,etc.properties that are of high theoretical and applied interest.Due to the computational difficulty of treating such large systems it is convenient to model them as infinite and periodic(at least,in first approximation).The fundamental theoretical/computational problem in doing so is that     

On the Thermodynamic Limit for Responses to Static Electromagnetic Fields

For molecular systems,the quantum-mechanical treatment of their responses to static electromagnetic fields usually employs a scalar-potential treatment of the electric field and a vector-potential treatment of the magnetic field.Although the potential for each field separately is associated with the choice of an(unphysical)origin,the precise choice of the origin for the electrostatic field has little consequences for the results.This is different for the     

Call for Papers

<正>"The Journal of Shanghai Normal University:Mathematics"is published by Shanghai Normal University as regular issues of The Journal of Shanghai Normal University each year from 2014 in English.The editors-in-chief of the issues are professors Yuhao Cong and Maoan Han.The Journal of Shanghai Normal University was started in 1958 with     

Journal of Donghua University ( English Edition) Contents of Volume 31

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