肺癌细胞株EGFR和MRP基因mRNA表达相关性研究

目的研究肺癌细胞株表皮生长因子受体基因(EGFR gene)mRNA与多药耐药性相关蛋白基因-MRP基因(MRP gene)mRNA表达相关性.方法原位分子杂交技术检测耐药性/非耐药性肺癌细胞株EGFR、MRP基因mRNA表达.结果耐药性/非耐药性肺癌细胞株均有不同程度EGFR、MRP基因mRNA表达,其表达与肺癌细胞株耐药性相关,且EGFR和MRP基因mRNA表达有明显相关性.结论 EGFR基因与MRP基因密切相关并影响肺癌细胞耐药性.     

肝癌相关基因的研究进展

肿瘤相关基因(tumor-related gene)包括癌基因(oncogene)、原癌基因(proto-oncogene)、病毒癌基因(viral oncogene)、肿瘤抑制基因(tumor suppressorgene)、肿瘤转移相关基因(metastasis-related gene)和肿瘤耐药基因(drug-resistance gene)等,在肿瘤的发生、发展、治疗与预后中发挥着重要作用。肿瘤相关基因的研究具有多方面的意义:首先,有助于阐明正常细胞发生恶性转化、肿瘤的发生、发展以及转归的分子生物学机制;其次,为肿瘤的早期诊断提供理论与技术基础;第三,为探索抗肿瘤分子生物学治疗手段指明努力的方向。肝细胞癌(hepatocellular …     

荧光原位杂交和免疫组织化学技术检测乳腺癌HER-2基因扩增和蛋白表达状态对照研究

目的 比较荧光原位杂交(FISH)与免疫组织化学技术(IHC)在检测乳腺癌患者HER-2基因扩增和表达状态方面的应用.方法 采用FISH技术对66例IHC检测结果为HER-2基因过度表达(3+/2+)和低表达或无表达(1+/-)的乳腺癌石蜡切片进行HER-2基因扩增状态检测.结果 用FISH技术检测42例IHC结果显示HER-2基因过度表达(3+/2+)的标本,31例显示HER-2基因扩增,11例无扩增.检测24例IHC检测显示HER-2基因低度表达或无表达(1+/-)的标本,均未显示HER-2基因扩增.两组之间比较,Kappa系数为0.672,P<0.001,显示两项检测技术具有良好的一致性.另外.用FISH技术检测到部分病例显示17号染色体多体性,并且该多体性在HER-2高表达(3+/2+)的病例发生率显著高于低表达或无表达(1+/-)的病例(x~2=4.688,P=0.03).结论 FISH和ICH两项技术具有良好的一致性.IHC可作为HER-2基因扩增和表达状态检测的筛查手段.FISH技术可以作为检测HER-2基因扩增和17号染色体多体性的确诊手段.

Abstract：

Objective To evaluate the application of the immunohistochemistry (IHC) and the fluorescence in situ hybridization (FISH) in detecting the amplification and the expression of HER-2 gene in the breast cancer patients. Methods Sixty-six cases of paraffin-embeded breast cancer samples with overexpression, low or no expression of HER-2 gene as detected by IHC were analyzed for HER-2 gene amplification using FISH. Results Among the 42 samples with HER-2 gene overexpression (3+/2+) detected by IHC, 31 showed positive HER-2 gene amplification and 11 showed negative HER-2 gene amplification in FISH. In the 24 samples with low or no HER-2 gene expression (1+/-) detected by IHC, no HER-2 gene amplification was detected by FISH. The results of the two testing methods showed a good consistency with the kappa coefficient of 0.672 (P<0.001). We also found that the 17 chromosome polysomy in 42% of the samples and the incidence of 17 polysomy was significantly higher in the HER-2 gene overexpression (3+/2+) group than in low or no HER-2 gene expression (1+/-) group (x~2=4.688, P=0.03). Conclusion IHC can be used as a screening method for detecting HER-2 gene amplification, and FISH should be performed in cases of HER-2 gene overexpression (3+/2+) as detected by IHC.     

Meox1对心血管系统的调控

<正>心血管系统的发育以及心血管疾病的发生受到众多的基因调控,包括各种类型的生长因子及其相应的生长因子受体以及转录调控因子。在转录调控因子中很重要的一个家族便是同源盒基因(Homeobox gene,Hox)。同源盒基因分为两个亚家族,Hox基因和歧异Hox基因,其中中胚层/间充质同源盒基因(Mesoderm/mesenchyme homeobox gene,Meox)属于后者,在调节细胞增殖、分化和迁移中起关键作用,并且它们在胚胎发育期间器官形成中起重要作用。心血管系统在胚胎发生和疾病形成,例     

缺血性脑卒中亚型GWAS研究的困境和挑战

<正>缺血性脑卒中的遗传学研究,从较早期的候选基因研究[1~3](candidate gene association studies)到近期的全组基因关联研究(genome-wide association studies,GWAS)[4~6],带来了海量的遗传信息。在海量的缺血性脑卒中相关的遗传信息中,医务人员片段化、标签化式地"读懂"了部分遗传信息,但是,对于缺血性脑卒中这个遗传异质性很强的多基因复杂疾病,完整准确地"读懂"缺血性脑卒中的遗传信息,尤其是能解读和理解缺     

我国诊断性试验系统评价/Meta分析的检索情况调查分析

目的:分析我国作者发表的中文诊断试验系统评价/Meta分析文献检索与筛选方法。方法:用"诊断"、"特异度"、"敏感度"、"系统评价"、"Meta分析"和"系统综述"等检索词检索中国生物医学文献数据库,检索时间截至2011年。根据预先制定的纳入和排除标准纳入符合条件的诊断试验系统评价,提取系统评价的基本资料和检索数据库名称、检索策略及文献筛选方法等数据并输入Excel,用SPSS 17.0进行统计分析。结果:最终纳入235篇系统评价/Meta分析,其中176篇(占74.9%)系统评价/Meta分析对中英文数据库均进行了检索,29篇(占12.3%)只检索了中文数据库,28篇(占11.9%)只检索英文数据库,139篇(占67.8%)系统评价/Meta分析检索了2个及以上中文数据库,151篇(74.0%)系统评价/Meta分析检索了2个及以上英文数据库。检索频率较高的中文数据库依次是CNKI、CBM、VIP、万方,英文数据库依次是PubMed、EMBASE、Cochrane Library和OVID。47.2%的系统评价/Meta分析实施了人工检索,88.1%报道了检索起止时间,46.4%对参考文献进行了追踪,10.2%联系了专家或作者,8.9%使用了搜索引擎。一般诊断试验系统评价的检索词有目标疾病、待评价试验和诊断准确性指标,三部分均有报告的占44.3%,三部分均无报告的占4.7%;48.9%详细报道了文献的筛选步骤,但仅有12.3%附有筛查流程图。结论:目前诊断试验系统评价/Meta分析数据库检索不够全面,很少检索诊断试验数据库。建议今后系统评价研究者至少检索2种常用数据库,完善搜索引擎、追踪参考文献使用、检索策略以及文献筛选等方面的报道。     

胃癌组织中微RNA-34b/c和微RNA-124a基因的甲基化

目的 探讨DNA甲基化对微RNA(miRNA)表达的影响.方法 取2009年7至11月天津医科大学总医院新鲜活检标本胃癌组、对照组各40例.应用甲基化特异性PCR(MSP)方法检测组织中miRNA-34b/c和miRNA-124a基因启动子区甲基化.结果 miRNA-34b/c基因启动子区高甲基化阳性率在胃癌组及对照组胃黏膜中分别为77.5%(31/40)和5.0%(2/40),差异有统计学意义(P<0.05).miRNA-124a基因启动子区高甲基化阳性率在两组中分别为60.0%(24/40)和0,差异有统计学意义(P<0.05).miRNA基因启动子区高甲基化阳性率与胃癌临床病理特征有关.结论 胃癌组织存在miRNA-34b/c和miRNA-124a基因启动子区高甲基化,并可能在胃癌的发生发展中起重要作用.

Abstract：

Objective To explore the effects of DNA methylation of microRNA (miRNA) gene on their expressions in patients with gastric carcinoma.Methods A total of 80 subjects were divided into gastric carcinoma group(n=40)and control group(n=40).The DNA methylation status of miRNA-34b/c and miRNA-124a gene promoters was detected by DNA methylation specific polymerase chain reaction (MSP) in gastric carcinoma tissues and normal mucosal tissues.Results The positive rate of DNA methylation of miRNA-34b/c gene promoter was 77.5%(31/40)and 5.0%(2/40)in gastric carcinoma and control groups respectively.There was statistically significant difference between two groups (P<0.05). The positive rate of DNA methylation of miRNA-124a gene promoter was 60.0%(24/40)and 0 in these two groups respectively.There was statistically significant difference between two groups (P<0.05).Also the hypermethylation positivity of gene promoter of miRNAs was correlated with the clinicopathological features of gastric carcinoma.Conclusion The hypermethylation of miRNA-34b/c and miRNA-124a gene promoters may play a crucial role in the occurrence and development of gastric carcinoma.     

基于生物信息学方法筛选高砷暴露人群的关键基因

目的 利用生物信息学方法筛选高砷暴露人群关键基因及相关信号通路。方法 从高通量基因表达(gene expression omnibus, GEO)数据库下载GSE110852数据集，通过GEO2R在线工具筛选差异表达基因(differentially expressed genes, DEGs),应用R语言绘制火山图和热图。应用注释、可视化和综合发现数据库(the database for annotation, visualization and integrated discovery, DAVID)对DEGs进行基因本体(gene ontology, GO)和京都基因和基因组数据库(kyoto encyclopedia of genes and genomes, KEGG)通路富集分析，使用R语言绘制结果气泡图。通过基因/蛋白相互作用检索搜查工具(search tool for the retrieval of interacting genes/proteins, STRING)数据库构建差异表达基因的蛋白质-蛋白质相互作用(protein-protein interactio...     

压力应激动物模型在肿瘤中的应用和研究现状

目的就各类压力应激荷瘤动物模型的造模方法进行综述,对其特点进行评述,并分析了压力应激在肿瘤发生发展中的作用机制。方法应用计算机检索PubMed数据库(2000/2013),以"stress,animal model,tumor"为检索词;检索中国知识资源总库(2000～2013)、重庆维普数据库(2000～2013)、万方数据库(2000～2013)三大中文期刊数据库,以"应激,动物模型,肿瘤"为检索词。文章所述内容需与应激动物模型的建立、应用、评价,及压力应激与肿瘤的关系等方面研究密切相关,排除重复性研究。结果共收集596篇关于应激动物模型的文献,中文156篇,英文440篇。阅读标题和摘要进行初筛,排除发表时间较早、重复及类似的研究,纳入30篇符合标准的文献。结论压力应激与肿瘤研究领域为进一步从抗焦虑、抑郁等角度筛选抗肿瘤药物提供参考。     

精神分裂症和不同亚型抑郁症患者DISC1基因rs821616多态性的对比分析

目的 探讨DISC1基因多态性与精神分裂症和不同亚型抑郁症之间的关联性,验证DISC1基因是否为精神分裂症和抑郁症共同的致病基因.方法 采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)和聚丙烯酰胺凝胶电泳分离技术,检测260例精神分裂症(分裂症组),96例伴精神病性症状的抑郁症(抑郁症1组),124例不伴精神病性症状的抑郁症(抑郁症2组)和100名正常人(对照组)的基因型和等位基因分布情况.分析DISC1基因单核苷酸多态性(SNP)位点ra821616与精神分裂症和不同亚型抑郁症的关联性.结果 分裂症组T/T、A/T、A/A基因型频率分别为3.5%、28.O%、69.5%,T、A等位基凶频率分别为9.6%和90.4%;抑郁症1组分别为3.1%、24.0%、72.9%、15.6%和84.4%;抑郁症2组分别为2.4%、23.4%、74.2%、15.3%和84.7%;对照组分别为1.0%、16.0%、83.0%、17.0%和83.0%.经非参数检验的Kruskal-Wallis检验,四组之间基因型总体比较Chi-Square=8.072,P=0.045,差异有统计学意义.四组之间等位基因总体比较X2=8.564,P=0.036,差异有统计学意义.组间两两比较经MannWhitney检验(双尾),基因型(Z=-2.802,P=0.005)和等位基因(Z=-2.837,P=0.005)分布在分裂症组与对照组之间差异有统计学意义,其他各组之间两两比较差异均无统计学意义(P>0.05).结论 DISC1基因多态性与精神分裂症显著关联,与不同亚型的抑郁症均无关联,不支持DISC1基因是精神分裂症和抑郁症共同致病基因的观点.

Abstract：

Objective To explore the association between disrupted in schizophrenia 1(DISC1) gene polymorphism and schizophrenia and different subtype depression.To verify if DISC1 gene is the common predisposing gene for schizophrenia and depression.Methods The genotypes and alleles in 260 cases of schizophrenic patients,96 cases of depressive patients with psychotic symptoms,124 cases of depressive patients without psychotic symptoms,and 100 normal controls were examined with polymerase chain reaction(PCR),denaturing polyacrylamide gel elcctmphoresis separation technique.The association was analyzed between DISC1 gene single nncleotide polymorphisms(SNP) locus rs821616 and schizophrenia and different subtype depression.Results The frequeneies of the genotypes T/T,A/T,and A/A were 3.5%,28.0%and 69.5%respectively,the frequencies of alleles T and A were 9.6%and 90.4% respectively in schizophrenia group.The frequencies of the genotypes T/T,A/T,and A/A were 3.1%,24.0% and 72.9% respectively,the frequencies of alleles T and A were 15.6% and 84.4% respectively in depression 1 group;The frequencies of the genotypes T/T,A/T,and A/A were 2.4%,23.4% and 74.2% respectively,the frequencies of alleles T and A were 15.3% and 84.7% respectively in depression 2 group;The frequencies ofthe genotypes T/T,A/T,and A/A were 1.0%,16.0% and 83.0% respectively,the frequencies of alleles T and A were 17.0% and 83.0% respectively in control group.There were significant differences in the frequencies of the genotypes (Chi-Square=8.072,P=0.045)and alleles(Chi-Square=8.564,P=0.036) of DISC1 gene among the four groups with non-parametric Kruskal-Wallis test.After pairwise comparison each other in the four groups we found that there were significant differences in the frequencies of the genotypes(Z=-2.802,P=0.005)and alleles(Z=-2.837,P=0.005) of DISC1 gene between patients with schizophrenia and normal controls with non-parametric Mann-Whitney test(two-tailed),there were no significant differences between other groups(P>0.05).Conclusion Our results suggest that DISC1 gene polymorphism is associated with schizophrenia significantly,but it is not associated with different subtype depression.This finding do not support the viewpoint that DISC1 gene is the common predisposing gene for schizophrenia and depression.     

结构式摘要撰写要求

<正>采用国际通用的结构式摘要。中文摘要100-300字,英文摘要150-250词,英文摘要与中文摘要对照。在英文摘要内容前需附英文文题、作者单位(包括邮政编码)及作者姓名(格式同前)。结构式摘要分"目的"、"方法"、"结果"和"结论"四部分,现将各部分的撰写要求分述如下。1.目的(Objective):简要说明研究的目的,说明提出问题的缘由,表明研究的范围和重要性。     

人脐带干细胞携带NGF基因脑内移植对脑损伤大鼠神经行为学的影响

目的 探讨人脐带间充质干细胞(UCMSC)携带NGF基因脑内移植对脑损伤大鼠神经行为学恢复的影响.方法 建立大鼠自由落体颅脑损伤动物模型;培养纯化人脐带干细胞(UCMSC),构建NGF-pcDNA III重组质粒载体,并转染UCMSC;体外检测UCMSC携带NGF基因的表达,并进行生物活性分析.将成功表达NGF的UCMSC局部移植入大鼠损伤脑组织.2周进行神经功能缺损评分(NSS)后,取脑组织行NGF免疫组织化学染色检测NGF表达情况.结果 脑损伤大鼠呈现明显的神经功能障碍(10.50±0.53)分;移植UCMS在损伤区存活,迁移,并促进大鼠神经功能部分恢复(7.75±0.71)分;而携带NGF基因的UCMSC移植导致神经功能明显改善(5.38±0.52)分,与单纯UCMSC移植组比较,差异有统计学意义(P＜0.01).结论 UCMSC作为携带NGF基因的细胞载体可用于脑内移植,NGF转基因UCMSC移植对脑损伤大鼠神经行为学恢复有明显的促进作用.

Abstract：

Objective To investigate the effect of NGF gene modified umbilical cord mesenchymal stem cells (UCMSC) transplantation on neurological functional improvement in traumatic brain rats. Methods Cerebral contusion model in motor-sensory cortex in rats was established by a weight hammer falling method. UCMSC were culutred and transferred with NGF gene. After NGF expression and activity was identified,the NGF gene modified UCMSC were engrafted into injured brain. The neurological function was evaluated 2 weeks after brain injury. And the NGF immunostaining was also performed to explore the level of NGF expression. Results Severe neurological dysfunction( 10.50 ± 0.53 )occurred in rats after traumatic brain injury, while the UCMSC transplantaion led to a significant functional improvement( 7.75 ± 0. 71 )(P ＜ 0. 01 ). Moreover, the best functional improvement was found in rats receiveing UCMSC grafts modified with NGF gene (5.38 ± 0. 52 ) (P ＜ 0.01 ). Conclusion NGF gene modified UCMSC transplantation can improve neural behavior in rats with brain trauma.     

乳腺癌HER-2的表达与临床病理特征的关系

目的 探讨荧光原位杂交(FISH)和免疫组织化学(IHC)检测乳腺癌组织中人表皮生长因子受体2(HER-2)基因扩增及蛋白表达的一致性和相关性,及其与乳腺癌患者的临床病理特征的关系.方法 采用FISH法检测128例乳腺癌患者HER-2基因扩增状态,与IHC结果进行一致性及相关性分析,并比较其与乳腺癌患者的临床病理特征的相关性.结果 128例乳腺癌标本中,IHC与FISH结果符合率为90.6%,存在一致性(Kappa=0.405,P=0.000).两种检查结果呈正相关(r=0.655,P=0.000).ER表达与HER-2基因扩增及其蛋白表达状态呈负相关(r=-0.300,P=0.001;r=-0.223,P=0.011),而ER/PR状态与HER-2基因扩增状态呈负相关(r=-0.213,P=0.016).肿瘤分级与HER-2蛋白表达呈负相关(r=-0.293,P=0.008),而与HER-2基因扩增状态无关(P＞0.05).结论 IHC(+++)与基因扩增有较好的一致性,而IHC(+～++)者有必要进一步行FISH法检测基因状态.ER、ER/PR状态及肿瘤分级与HER-2基因扩增和(或)蛋白表达存在相关性.

Abstract：

Objective To investigate the concordance and correlation between fluorescence in situ hybridization (FISH) and immunohistochemistry (IHC) assessment for HER-2 status in breast cancer patients and analyze their relationship to clinical characteristics. Methods A total of 128 samples of breast cancer tissue were analyzed retrospectively. FISH was employed to detect the HER-2 gene amplification. And the FISH findings were compared with IHC test results by analyzing the concordance and correlation between two results. And their relationships to the clinical characteristics were analyzed. Results The overall coincidence rate of IHC and FISH was 90. 6% ( kappa = 0.405, P = 0. 000 ). And the discordance was mainly found in the IHC ( + + ) group. A positive correlation was found between the two results ( r =0. 655, P=0. 000). The ER (estrogen receptor) expression was negatively correlated with HER-2 gene amplification and the expression of Her-2 protein ( r = - 0. 300, P = 0. 001;r = - 0. 223, P = 0.011 ).There was a negative correlation between ER/PR status and HER-2 gene amplification (r = -0.213, P=0.016). The similar results were found in subgroup analysis. Tumor grade was negatively correlated with the expression of Her-2 protein ( r = - 0. 293, P = 0. 008 ), but not with HER-2 gene amplification ( P ＞0. 05). Conclusion IHC is a preferred method to detect the Her-2 status in breast cancer. The strong positive expression ( + + + ) of HER-2 protein tested by IHC is strongly consistent with HER-2 gene amplification by FISH. But HER-2 gene amplification should be further detected by FISH in patients with HER-2 positive expression ( + - + + ) in order to guide the clinical diagnosis and treatment. ER, ER/PR (progesterone receptor)status and tumor grade are correlated with HER-2 gene amplification and/or the expression of Her-2 protein. This study helps improve the accuracy of judging HER-2 gene amplification according to the clinical and pathological features such as ER status and the results of IHC.     

分枝杆菌病噬菌体33D基因组学特征及抗结核潜力

【摘要】 目的 研究分枝杆菌噬菌体33D的基因组特性并探索其抗结核治疗的潜力。方法 通过鸟枪法完成33D全基因组测序;使用 DNAStar、TRF、Promoter predictions、tRNAscan SE、Glimmer、BLAST 软件分别对33D基因组进行分析。结果 噬菌体33D基因组为线性双链DNA,全长50036bp;含有84个推定基因,17个已知功能的基因。其中噬菌体DNA复制相关基因：gene6、7、8、9和gene 14;裂解酶基因：gene 47和gene 48。结论 噬菌体33D为烈性噬菌体,具有抗结核潜力,未发现致病基因,可作为“鸡尾酒疗法”的候选噬菌体。     

模因论与中医术语词素层译法

模因(meme)这个术语在Richard Dawkins(1976)所著的The Selfish Gene中首次出现.模因论 (memetics) 是一种基于达尔文进化论的观点解释文化进化规律的新理论,它指文化领域内人与人之间相互模仿、传播开来的思想或主意,并一代一代地相传下来.模因(meme)用了与基因(gene)相近的发音,表示"出自相同基因而导致相似"的意思,故模因指文化基因.     

结直肠癌组织中ERCC1和BRCA1的表达及其与铂类化疗疗效的相关性

目的 探讨结直肠癌组织中核苷酸切除修复交错互补基因1(excision repair cross-complementing gene 1,ERCC1)及乳腺癌易感基因1(breast cancer susceptibility gene 1,BRCA1)的表达及其临床意义。方法 采用免疫组化的方法检测结直肠癌组织中E...     

OPCML基因与卵巢癌研究进展

<正>卵巢癌是妇科常见的恶性肿瘤,也是妇科恶性肿瘤病人的首要死亡因素,死亡率高达70%,研究发现OPCML基因在其生长发展过程中也可能起重要作用。1 OPCML基因的结构与生物学功能OPCML基因即阿片肽结合蛋白基因(opioid-binding protein/cell adhesion molecule-like gene,OPCML)定位于人类染色体11q25,包含有7个外显子,全长有60kb,表达的蛋白位于细胞膜,是一个鸦片受体类的细胞黏附因子,首先报道从大鼠脑     

MRP基因表达对NSCLC术后化疗的影响

目的"探讨多药耐药性相关蛋白基因--MRP基因(multi-drug resistance associated protein gene)对肺癌患者术后化疗疗效的影响. 方法"应用原位分子杂交结合免疫组化技术检测35例非小细胞肺癌(NSCLS)根治术后化疗患者石蜡组织标本中肺癌细胞MRP基因mRNA表达,并回顾性随访. 结果"35例NSCLC患者肺癌细胞均有不同程度的MRP基因mRNA表达,其表达水平与术后化疗疗效密切相关. 结论"MRP基因mRNA表达水平与肺癌患者术后化疗疗效有密切相关性,检测MRP基因mRNA表达水平可预测肺癌患者化疗疗效.