• 【哪些血栓形成基因突变是复发性流产的危险因素?】 复制标题 收藏 收藏
    DOI:10.1111/j.1600-0897.2006.00419.x 复制DOI
    作者列表:Goodman CS,Coulam CB,Jeyendran RS,Acosta VA,Roussev R
    BACKGROUND & AIMS: PROBLEM:Thrombophilia has been associated with poor obstetrical outcomes. To determine the association of specific inherited thrombophilias and recurrent pregnancy loss, 10 thrombophilic genes were investigated. METHOD OF STUDY:A total of 550 women with a history of recurrent pregnancy loss had buccal swabs taken for DNA analyses of the following gene mutations: factor V G1691A, factor V H1299R (R2), factor V Y1702C, factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C. The frequencies of these mutations were compared with controls published in the literature. RESULTS:When examined individually, PAI-1 4G/5G (P = 0.009), factor XIII V34L (P < 0.0001), and homozygous MTHFR C667T (P < 0.0001) correlated significantly with recurrent pregnancy loss compared with controls. The frequency of the factor V Y1702C mutation was extremely low in patients and controls; thus, this gene was removed from further calculations. The remaining six mutated genes, when analyzed cumulatively, also corresponded with recurrent pregnancy loss (P < 0.0001). CONCLUSION:A panel of thrombogenic gene mutations consisting of factor V G1691A, factor V H1299R (R2), factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), MTHFR C677T, and MTHFR A1298C can identify individuals at risk for recurrent pregnancy loss.
    背景与目标: 问题:血友病与产科预后不良有关。为了确定特定遗传性血栓形成症与复发性流产的关联,研究了10个血栓形成性基因。
    研究方法:总共550名有反复性流产史的妇女接受了口腔拭子以进行以下基因突变的DNA分析:因子V G1691A,因子V H1299R(R2),因子V Y1702C,因子II凝血酶原G20210A,因子XIII V34L,β-纤维蛋白原-455G> A,PAI-1 4G / 5G,HPA1a / b(L33P),亚甲基四氢叶酸还原酶(MTHFR)C677T,MTHFR A1298C。将这些突变的频率与文献中发表的对照进行了比较。
    结果:当单独检查时,与对照组相比,PAI-1 4G / 5G(P = 0.009),XIII因子V34L(P <0.0001)和纯合MTHFR C667T(P <0.0001)与复发性流产显着相关。在患者和对照组中,V Y1702C因子突变的频率非常低。因此,该基因已从进一步的计算中删除。当进行累积分析时,剩下的六个突变基因也与复发性流产相对应(P <0.0001)。
    结论:一组血栓形成基因突变,由因子V G1691A,因子V H1299R(R2),因子II凝血酶原G20210A,因子XIII V34L,β-纤维蛋白原-455G> A,PAI-1 4G / 5G,HPA1 a / b( L33P),MTHFR C677T和MTHFR A1298C可以识别有复发性流产风险的个体。
  • 【大鼠角膜缘和中央角膜上皮中基因表达(SAGE)的系列分析。】 复制标题 收藏 收藏
    DOI:10.1167/iovs.06-0216 复制DOI
    作者列表:Adachi W,Ulanovsky H,Li Y,Norman B,Davis J,Piatigorsky J
    BACKGROUND & AIMS: PURPOSE:To identify genes preferentially expressed in the stem-cell-rich limbal epithelium of the rat cornea. METHODS:The limbal and central corneal epithelial cells of 6-week-old rats were isolated by microdissection. Serial analysis of gene expression (SAGE) libraries were constructed and analyzed, and in situ hybridization, reverse transcription-polymerase chain reaction (RT-PCR) and cDNA cloning were conducted by conventional procedures. RESULTS:The rat limbal and central corneal epithelial SAGE libraries consisted of 41,894 and 40,691 tags, respectively. After annotation, this was reduced to 759 transcripts specific for the limbal library and 844 transcripts specific for the central corneal library; 2292 transcripts overlapped. Transcripts encoding proteins with metabolic functions comprised the major functional category in both libraries. In situ hybridization and/or RT-PCR results of 12 of the most abundant, highly enriched transcripts in the limbal epithelium were in general agreement with the SAGE data and showed that these proteins are also expressed in the conjunctival epithelium. Interesting limbal-enriched transcripts encode WDNM1-like protein (similar to WDNM1/Expi, a putative secreted proteinase and inhibitor of metastasis), mesothelin (a cancer marker), marapsin (a trypsin-like serine protease that may control cell growth and migration), K4 and K15 (both cytokeratins), and membrane-spanning four-domain subfamily A member 8B. WDNM1-like protein was cloned and confirmed as a member of the four-disulfide core family. CONCLUSIONS:The SAGE results extend the database of genes expressed in the rodent cornea and suggest an association between several genes preferentially expressed in the limbal epithelium with cellular proliferation and migration.
    背景与目标: 目的:鉴定在大鼠角膜的富含干细胞的角膜缘上皮细胞中优先表达的基因。
    方法:采用显微解剖技术分离6周龄大鼠角膜缘和角膜上皮细胞。构建并分析基因表达(SAGE)库的序列分析,并通过常规方法进行原位杂交,逆转录-聚合酶链反应(RT-PCR)和cDNA克隆。
    结果:大鼠角膜缘和角膜上皮SAGE文库分别由41,894和40,691个标签组成。注释后,该数目减少为角膜缘文库特异的759个转录物和中央角膜文库特异的844个转录物。 2292个成绩单重叠。编码具有代谢功能的蛋白质的转录本在两个文库中均属于主要功能类别。角膜缘上皮细胞中12种最丰富,高度富集的转录本的原位杂交和/或RT-PCR结果与SAGE数据基本一致,表明这些蛋白也在结膜上皮细胞中表达。有趣的角膜缘丰富的转录本编码WDNM1样蛋白(类似于WDNM1 / Expi,一种推测的分泌蛋白酶和转移抑制剂),间皮素(一种癌症标志物),marapsin(一种胰蛋白酶样丝氨酸蛋白酶,可以控制细胞的生长和迁移)。 ,K4和K15(均为细胞角蛋白)和跨膜四结构域亚家族A成员8B。克隆了类似WDNM1的蛋白质,并确认其为四-二硫键核心家族的成员。
    结论:SAGE结果扩展了在啮齿动物角膜中表达的基因数据库,并暗示了在角膜缘上皮中优先表达的几个基因与细胞增殖和迁移之间的关联。
  • 【与人神经胶质瘤有关的人核糖体蛋白L14.22的全长新基因。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Qi ZY,Hui GZ,Li Y,Zhou ZX,Gu SH,Xie Y
    BACKGROUND & AIMS: BACKGROUND:This study was undertaken to obtain differentially expressed genes related to human glioma by cDNA microarray and the characterization of a novel full-length gene. METHODS:Total RNA was extracted form human glioma and normal brain tissue, and mRNA was used as a probe. The results of hybridization procedure were scanned with the computer system. The gene named 507E08 cone was subsequently analyzed by northern blot, bioinformatic approach, and protein expression. RESULTS:Fifteen differentially expressed genes were obtained from human glioma by hybridization and scanning for four times. Northern blot analysis confirmed that the 507E08 clone was low expressed in human brain tissue and over expressed in human glioma tissues. The analysis of BLASTn and BLASTx showed that the 507E08 clone was a novel full-length gene, which codes 203 amino acid of protein and is called human ribosomal protein 14.22 gene. The nucleotide sequence had been submitted to the GenBank with the accession number of AF329277. After expression in E. coli., protein yielded a major band of apparent molecular mass 22 kDa on an SDS-PAGE gel. CONCLUSIONS:cDNA microarray technology can be successfully used to identify differentially expressed genes. The novel full-length gene of human ribosomal protein 13.22 may be correlated with the development of human glioma.
    背景与目标: 背景:本研究旨在通过cDNA微阵列技术获得与人神经胶质瘤相关的差异表达基因,并鉴定一个新的全长基因。
    方法:从人脑胶质瘤和正常脑组织中提取总RNA,并以mRNA为探针。杂交程序的结果用计算机系统扫描。随后通过Northern印迹,生物信息学方法和蛋白质表达来分析名为507E08视锥细胞的基因。
    结果:通过杂交和扫描4次,从人脑胶质瘤中获得了15个差异表达基因。 Northern印迹分析证实507E08克隆在人脑组织中低表达而在人脑胶质瘤组织中高表达。对BLASTn和BLASTx的分析表明,507E08克隆是一个新颖的全长基因,其编码蛋白质的203个氨基酸,被称为人核糖体蛋白质14.22基因。该核苷酸序列已提交给GenBank,登录号为AF329277。在大肠杆菌中表达后,蛋白质在SDS-PAGE凝胶上产生一条表观分子量为22 kDa的主带。
    结论:cDNA微阵列技术可成功用于鉴定差异表达的基因。人核糖体蛋白13.22的新的全长基因可能与人脑胶质瘤的发展有关。
  • 【罕见的母体mRNA编码调控蛋白,这些蛋白控制着海胆胚胎中谱系特异性基因的表达。】 复制标题 收藏 收藏
    DOI:10.1073/pnas.87.20.7953 复制DOI
    作者列表:Cutting AE,Höög C,Calzone FJ,Britten RJ,Davidson EH
    BACKGROUND & AIMS: :The prevalence of mRNAs coding for the sea urchin embryo regulatory factors P3A1 and P3A2 was measured by single-strand probe excess solution hybridization. P3A1 and P3A2 are not homologous proteins, though they both bind specifically to a particular cis-regulatory sequence. Interaction at this target site is known to be required for lineage-specific expression of an aboral ectoderm-specific gene and probably for several other genes as well. Genome blot hybridizations show that both factors are encoded by single-copy genes. Maternal mRNAs for both factors are present at less than 10(3) molecules per egg, which places them in the rare mRNA class. During development to the mesenchyme blastula stage, the amount of P3A1 mRNA (per embryo) increases severalfold while that of P3A2 remains approximately constant. Specification of the aboral ectoderm founder cells and of their initial patterns of gene expression must occur during early to mid-cleavage stage. Therefore, the regulatory proteins needed for this process must be produced by this stage. We show that the quantities of the P3A proteins that can be synthesized from the numbers of mRNA molecules present in the large blastomeres of the early embryo are sufficient to be functional, because these proteins will be accumulated in the nuclei. Thus maternal P3A1 or P3A2 proteins asre not required, nor were these detected in earlier studies. Furthermore, differential spatial (as well as temporal) distribution of both of these newly synthesized factor species could result from the unequal cleavage pattern utilized in the sea urchin egg.
    背景与目标: :通过单链探针过量溶液杂交测量编码海胆胚胎调节因子P3A1和P3A2的mRNA的发生率。尽管P3A1和P3A2都与特定的顺式调控序列特异性结合,但它们不是同源蛋白。已知该靶标位点的相互作用是特定于宗族的外胚层特异性基因的谱系表达所必需的,并且可能还需要其他几个基因。基因组印迹杂交显示这两个因子均由单拷贝基因编码。每个鸡蛋的母体mRNA均少于10(3)个分子,这使它们处于罕见的mRNA类中。在发育到间充质囊阶段期间,P3A1 mRNA(每个胚胎)的数量增加了几倍,而P3A2的数量则保持大致恒定。胎盘外胚层基础细胞及其基因表达的初始模式的规范必须在卵裂早期至中期进行。因此,必须在该阶段生产该过程所需的调节蛋白。我们表明,可以从早期胚胎的大型卵裂球中存在的mRNA分子数量合成的P3A蛋白数量足以发挥功能,因为这些蛋白将积聚在细胞核中。因此,不需要母体P3A1或P3A2蛋白,也不需要在早期研究中检测到这些蛋白。此外,这两种新合成的因子物种在空间(以及时间)上的差异分布可能是由于海胆卵中使用的不均等卵裂模式造成的。
  • 【肺鱼是化石吗?阿片/孤儿蛋白基因家族进化的观察。】 复制标题 收藏 收藏
    DOI:10.1016/j.ygcen.2006.07.010 复制DOI
    作者列表:Lee J,Alrubaian J,Dores RM
    BACKGROUND & AIMS: :This minireview considers the possibility that there is a correlation between the slow rate of morphological change and speciation events that has been occurred within the lungfish lineage since the Permian period, and the apparent slow rate of divergence in the amino acid sequences of lungfish opioid precursor sequences. The status of lungfish as "living fossils" is considered.
    背景与目标: :本篇小型综述认为,二叠纪以来在肺鱼谱系内发生的形态变化和物种形成的缓慢速率与形态上的缓慢变化与肺鱼阿片样物质前体的氨基酸序列的明显缓慢速率之间存在相关性的可能性序列。考虑到肺鱼作为“活化石”的地位。
  • 【全脑原发性和单发性下垂病的连续基因综合征:与18p11.3缺失相关。】 复制标题 收藏 收藏
    DOI:10.1002/ajmg.a.31386 复制DOI
    作者列表:Kantaputra PN,Limwongse C,Tochareontanaphol C,Mutirangura A,Mevatee U,Praphanphoj V
    BACKGROUND & AIMS: :We report a patient with a unique combination of features, including microcephaly; mental retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism; alopecia universalis; single maxillary central incisor; taurodontism; median palatal ridge; longitudinally grooved nails; and scoliosis. His unbalanced karyotype was found to be 45,XY,der(15;18)(q10;q10). The constellation of anomalies appears to represent a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene responsible for hereditary hypotrichosis simplex. The phenotype of our patient differs other reported patients with del(18p). Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation.
    背景与目标: :我们报告的患者具有独特的功能组合,包括小头畸形;智力低下;额叶发育不良;垂体发育不全甲状腺功能减退;普遍性脱发;单上颌中切牙;牛头牙症pa中纵向开槽的指甲;和脊柱侧弯。发现他的不平衡核型为45,XY,der(15; 18)(q10; q10)。异常群似乎代表着一种连续的基因综合征,这种综合征至少部分地是由于TGIF的缺失和负责遗传性单纯性遗传不足的基因引起的。我们患者的表型与其他报道的del(18p)患者不同。可能的解释包括(1)不同缺失区域的作用,(2)由附近基因引起的位置作用,或(3)由染色体易位引起的不同基因的中断。
  • 【通过过继转移CD4抗肿瘤T细胞杀死原位大鼠腺癌13762需要细胞表面MHC II类分子的肿瘤表达。】 复制标题 收藏 收藏
    DOI:10.1006/cimm.1997.1122 复制DOI
    作者列表:Frey AB,Cestari S
    BACKGROUND & AIMS: CD4+ anti-tumor T cells reactive with rat adenocarcinoma 13762 kill tumor in vitro and cause regression of tumor in vivo. The role of various host immune cells in CD4+ T-cell-mediated tumor elimination in vivo was investigated by adoptive transfer of anti-tumor T cell clones to recipients that were selectively depleted of individual immune cell types. By these means, macrophages and NK cells were found to be required for tumor killing. Depletion of host CD4+ T cells, CD8+ T cells, or neutrophils was without effect on tumor elimination by anti-tumor T cells. An essential role for antigen receptor-negative NK cells is likely dependent upon secretion of IFN-gamma from NK cells since treatment of tumor recipients with anti-IFN-gamma antibody prior to adoptive transfer and tumor challenge abrogated T cell killing, resulting in progressive tumor growth. Viability of adenocarcinoma 13762 or anti-tumor T cells was unaffected by treatment with either IFN-gamma or anti-IFN-gamma antibody in vitro, but cell surface MHC class II expression was induced in tumor cells by exposure to IFN-gamma. In addition, tumor cells were isolated from tumor-bearing animals by absorption using anti-MHC class II antibody, demonstrating that 13762 tumor expresses cell surface MHC class II antigens in situ. However, if hosts were depleted of NK cells before tumor challenge, MHC class II+ tumor was not recovered. Collectively these results suggest that adenocarcinoma 13762 is eliminated by MHC class II-restricted CD4+ T cells by direct tumor killing.

    背景与目标: 与大鼠腺癌13762反应的CD4抗肿瘤T细胞在体外杀死肿瘤并在体内引起肿瘤消退。通过将抗肿瘤T细胞克隆过继转移到选择性清除了个体免疫细胞类型的受体上,研究了各种宿主免疫细胞在体内CD4 T细胞介导的肿瘤消除中的作用。通过这些手段,发现杀死肿瘤需要巨噬细胞和NK细胞。宿主CD4 T细胞,CD8 T细胞或嗜中性白细胞的耗竭对抗肿瘤T细胞对肿瘤的消除没有影响。抗原受体阴性NK细胞的重要作用可能取决于NK细胞分泌IFN-γ,因为在过继转移和肿瘤攻击之前用抗IFN-γ抗体治疗肿瘤受体可以消除T细胞杀伤,从而导致进行性肿瘤生长。体外用IFN-γ或抗IFN-γ抗体治疗不会影响腺癌13762或抗肿瘤T细胞的存活率,但通过暴露于IFN-γ诱导了肿瘤细胞的细胞表面MHC II类表达。另外,通过使用抗MHC II类抗体的吸收从荷瘤动物中分离出肿瘤细胞,表明13762肿瘤原位表达细胞表面MHC II类抗原。但是,如果宿主在肿瘤攻击前已耗尽NK细胞,则无法恢复MHC II类肿瘤。这些结果共同表明,通过直接杀死肿瘤,MHC II类限制性CD4 T细胞可消除13762腺癌。

  • 【躁狂抑郁症与来自GABRbeta-1基因的高度多态性标记之间的遗传关联研究。】 复制标题 收藏 收藏
    DOI:10.1002/(sici)1096-8628(19970531)74:3<342::aid-ajm 复制DOI
    作者列表:Puertollano R,Visedo G,Zapata C,Fernández-Piqueras J
    BACKGROUND & AIMS: We report on an association study between a tetranucleotide repeat polymorphism in the GABR beta1 gene and manic-depressive illness in a Spanish population. This gene may be an important candidate for bipolar affective disorders since severe GABergic alterations have been described in patients. Although our results do not reveal a clear evidence for association between manic-depressive illness and GABR beta1, we have found significant differences between patients and controls in the female subpopulation.

    背景与目标: 我们报告了GABR beta1基因中的四核苷酸重复多态性与西班牙人群的躁狂抑郁症之间的关联研究。该基因可能是双相情感障碍的重要候选者,因为已在患者中描述了严重的GAB能改变。尽管我们的结果并未显示出躁狂抑郁症与GABR beta1之间存在关联的明确证据,但我们发现女性亚人群中的患者与对照组之间存在显着差异。

  • 【拟南芥中吸收氢酶的调控和氢利用对基因表达的影响。】 复制标题 收藏 收藏
    DOI:10.1128/JB.00381-06 复制DOI
    作者列表:Rey FE,Oda Y,Harwood CS
    BACKGROUND & AIMS: :Rhodopseudomonas palustris is a purple, facultatively phototrophic bacterium that uses hydrogen gas as an electron donor for carbon dioxide fixation during photoautotrophic growth or for ammonia synthesis during nitrogen fixation. It also uses hydrogen as an electron supplement to enable the complete assimilation of oxidized carbon compounds, such as malate, into cell material during photoheterotrophic growth. The R. palustris genome predicts a membrane-bound nickel-iron uptake hydrogenase and several regulatory proteins to control hydrogenase synthesis. There is also a novel sensor kinase gene (RPA0981) directly adjacent to the hydrogenase gene cluster. Here we show that the R. palustris regulatory sensor hydrogenase HupUV acts in conjunction with the sensor kinase-response regulator protein pair HoxJ-HoxA to activate hydrogenase expression in response to hydrogen gas. Transcriptome analysis indicated that the HupUV-HoxJA regulatory system also controls the expression of genes encoding a predicted dicarboxylic acid transport system, a putative formate transporter, and a glutamine synthetase. RPA0981 had a small effect in repressing hydrogenase synthesis. We also determined that the two-component system RegS-RegR repressed expression of the uptake hydrogenase, probably in response to changes in intracellular redox status. Transcriptome analysis indicated that about 30 genes were differentially expressed in R. palustris cells that utilized hydrogen when growing photoheterotrophically on malate under nitrogen-fixing conditions compared to a mutant strain that lacked uptake hydrogenase. From this it appears that the recycling of reductant in the form of hydrogen does not have extensive nonspecific effects on gene expression in R. palustris.
    背景与目标: :Rhodopseudomonas palustris是一种紫色的兼性光养细菌,它利用氢气作为电子供体,在光养植物生长过程中固定二氧化碳,或在固氮过程中合成氨气。它还使用氢作为电子补充剂,以在光异养生长期间将氧化的碳化合物(例如苹果酸)完全同化到细胞材料中。 R. palustris基因组预测膜结合的镍铁摄取氢化酶和几种调节蛋白来控制氢化酶的合成。与氢化酶基因簇直接相邻的还有一个新的传感器激酶基因(RPA0981)。在这里,我们显示帕氏疟原虫调节传感器氢化酶HupUV与传感器激酶响应调节蛋白对HoxJ-HoxA共同作用,以响应氢气激活氢化酶表达。转录组分析表明,HupUV-HoxJA调节系统还控制编码预测的二羧酸转运系统,推定的甲酸盐转运蛋白和谷氨酰胺合成酶的基因的表达。 RPA0981在抑制氢化酶合成方面作用很小。我们还确定了两组分系统RegS-RegR抑制摄取氢化酶的表达,可能是响应细胞内氧化还原状态的变化。转录组分析表明,与缺乏摄取氢酶的突变菌株相比,当在固氮条件下在苹果酸上光异养生长时,利用氢的pal.ris细胞中约有30个基因差异表达。由此看来,还原剂以氢的形式的循环利用对R. palustris的基因表达没有广泛的非特异性影响。
  • 【P53基因的等位基因缺失与膀胱癌的肿瘤分级,分期和恶性进展的相关性。】 复制标题 收藏 收藏
    DOI:10.1111/j.1442-2042.1997.tb00144.x 复制DOI
    作者列表:Tsutsumi M,Sugano K,Yamaguchi K,Kakizoe T,Akaza H
    BACKGROUND & AIMS: BACKGROUND:We examined loss of heterozygosity (LOH) of the P53 gene in bladder cancer, and investigated the role of the P53 gene on malignant progression of papillary tumors. In addition, the clonality of recurrent bladder cancer was examined. METHODS:LOH of the P53 gene was analyzed in 67 bladder cancers from 47 patients. DNA was extracted from formalin-fixed, paraffin-embedded tissues, amplified by the polymerase chain reaction (PCR) at 3 polymorphic loci in the P53 gene, and analyzed with nonradioisotopic single-strand conformation polymorphism (Non-RI SSCP) analysis. RESULTS:Out of 40 informative samples, LOH was detected in 13 samples, containing 4 of 7 in grade 3 (57%), 9 of 23 in grade 2 (39%), and none of 10 in grade 1 (10%). Statistical significance was observed between the LOH in grades 1 and 2, and in grades 1 and 3. An analysis of 5 cases showing malignant progression revealed that 3 (60%) showed an LOH in the primary tumor, and 2 showed LOH in recurrent tumors, in contrast to LOH found in 3 cases of 19 (16%) not showing malignant progression. Four cases with metachronous recurrence exhibited LOH; 2 at recurrent tumors, 1 only at the initial tumor, and 1 at both tumors. CONCLUSIONS:The alterations of the P53 gene were considered to correlate with tumor grade, and contribute to the malignant progression of bladder cancer. LOH in the P53 gene may serve as a clinical indicator for prognosis in superficial bladder cancer.
    背景与目标: 背景:我们检查了膀胱癌中P53基因的杂合性(LOH)缺失,并研究了P53基因在乳头状瘤恶性进展中的作用。另外,检查了复发性膀胱癌的克隆性。
    方法:分析了47例患者的67例膀胱癌中P53基因的LOH。从福尔马林固定,石蜡包埋的组织中提取DNA,在P53基因的3个多态性位点处通过聚合酶链反应(PCR)进行扩增,并通过非放射性同位素单链构象多态性(Non-RI SSCP)分析。
    结果:在40个信息量样本中,在13个样本中检测到LOH,其中3个7级中有4个(57%),2个23级中有9个(39%),1个10级中没有10个(10%)。在1级和2级以及1级和3级的LOH之间观察到统计学意义。对5例恶性进展的分析表明,3例(60%)在原发性肿瘤中显示LOH,2例在复发性肿瘤中显示LOH。 ,与LOH在19例(16%)的3例中未显示出恶性进展的情况相反。 4例异时复发表现为LOH。在复发性肿瘤中2个,仅在初始肿瘤中1个,在两个肿​​瘤中1个。
    结论:P53基因的改变被认为与肿瘤的分级有关,并有助于膀胱癌的恶性进展。 P53基因中的LOH可作为浅表性膀胱癌预后的临床指标。
  • 【克隆一种在癌症中高度过表达的基因,该基因编码一种新型的含有KH域的蛋白质。】 复制标题 收藏 收藏
    DOI:10.1038/sj.onc.1201110 复制DOI
    作者列表:Müeller-Pillasch F,Lacher U,Wallrapp C,Micha A,Zimmerhackl F,Hameister H,Varga G,Friess H,Büchler M,Beger HG,Vila MR,Adler G,Gress TM
    BACKGROUND & AIMS: :In a previous large scale screen for differentially expressed genes in pancreatic cancer, we identified a gene highly overexpressed in cancer encoding a novel protein with four K-homologous (KH) domains. KH-domains are found in a subset of RNA-binding proteins, including pre-mRNA-binding (hnRNP) K protein and the fragile X mental retardation gene product (FMR1). By fluorescence in situ hybridization (FISH) the identified gene named koc (KH domain containing protein overexpressed in cancer) was assigned to chromosome 7p11.5. Two pseudogenes were localised on chromosome 6 and 11. The cloned koc cDNA has a 250 bp 5'-UTR, a 1740 bp ORF and a 2168 bp 3'-UTR. The AU-rich 3'-untranslated region of koc contains eight AUUUA and four AUUUUUA reiterated motifs. The deduced koc protein with 580 amino-acids has a relative molecular mass (Mr) of approximately 65,000 (65 K). The koc transcript is highly overexpressed in pancreatic cancer cell lines and in pancreatic cancer tissue as compared to both, normal pancreas and chronic pancreatitis tissue. High levels of expression were as well found in tissue samples of other human tumours. As the KH domain has been shown to be involved in the regulation of RNA synthesis and metabolism, we speculate that koc may assume a role in the regulation of tumour cell proliferation by interfering with transcriptional and or posttranscriptional processes. However, the precise role of koc in human tumour cells is unknown and remains to be elucidated.
    背景与目标: :在先前针对胰腺癌中差异表达基因的大规模筛选中,我们鉴定了在癌症中高度过表达的基因,该基因编码具有四个K同源(KH)域的新型蛋白质。 KH结构域存在于RNA结合蛋白的子集中,包括前mRNA结合(hnRNP)K蛋白和脆弱的X智力低下基因产物(FMR1)。通过荧光原位杂交(FISH),将鉴定出的名为koc(在癌症中过表达的KH域蛋白)的基因分配给7p11.5染色体。两个假基因位于6号和11号染色体上。克隆的koc cDNA具有250 bp的5'-UTR,1740 bp的ORF和2168 bp的3'-UTR。富含AU的3'非翻译区域的koc包含八个AUUUA和四个AUUUUUA重复的基序。推导的具有580个氨基酸的koc蛋白的相对分子质量(Mr)约为65,000(65 K)。与正常胰腺和慢性胰腺炎组织相比,koc转录本在胰腺癌细胞系和胰腺癌组织中高度过表达。在其他人类肿瘤的组织样本中也发现了高水平的表达。由于已经显示出KH结构域参与RNA合成和代谢的调节,我们推测koc可能通过干扰转录和/或转录后过程而在调节肿瘤细胞增殖中发挥作用。但是,koc在人肿瘤细胞中的确切作用尚不清楚,尚待阐明。
  • 【口腔黏膜鳞状细胞癌中钙调蛋白基因RNA表达的增强,但在良性病变中则没有。】 复制标题 收藏 收藏
    DOI:10.1111/j.1600-0714.1997.tb01225.x 复制DOI
    作者列表:Berta GN,Ghezzo F,D'Avolio A,Zulian P,Carbone V,Racca S,Vercellino V,Di Carlo F
    BACKGROUND & AIMS: :Oral cancer is a neoplasm with some known causes. Proliferation genes are significant among its few pathogenetic and prognostic factors. Calcyclin is a cell-cycle-related gene, the function of which is still unclear. Its expression and that of Haras and histone-H3 have been investigated in an assessment of their pathogenetic role in squamous cell carcinoma. RNA extracted from the pathological and normal mucosa of patients with squamous cell carcinoma (SCC) and benign lesions was reverse transcribed and amplified by the polymerase chain reaction (PCR). The expression of all three genes in the pathological mucosa was enhanced in SCC only. This suggests that they may be involved in its pathogenesis and provides another parameter for the differentiation of malignant and benign lesions.
    背景与目标: :口腔癌是一种具有某些已知原因的肿瘤。增生基因在其少数致病和预后因素中很重要。钙环蛋白是与细胞周期相关的基因,其功能尚不清楚。为了评估它们在鳞状细胞癌中的致病作用,已经研究了它的表达以及Haras和组蛋白H3的表达。从鳞状细胞癌(SCC)和良性病变的病理和正常粘膜中提取的RNA通过聚合酶链反应(PCR)进行逆转录和扩增。仅在SCC中,病理黏膜中所有三个基因的表达均得到增强。这表明它们可能参与其发病机理,并为区分恶性和良性病变提供了另一个参数。
  • 【小鼠第6号染色体上自然杀手基因复合物的2-Mb YAC重叠群和物理图谱。】 复制标题 收藏 收藏
    DOI:10.1006/geno.1997.4721 复制DOI
    作者列表:Brown MG,Fulmek S,Matsumoto K,Cho R,Lyons PA,Levy ER,Scalzo AA,Yokoyama WM
    BACKGROUND & AIMS: :We have constructed a physical map of a > 2-Mb region on mouse chromosome 6 that contains the natural killer gene complex (NKC). The map comprises a contig of 14 overlapping yeast artificial chromosomes onto which we positioned 25 NKC markers. NKC genetically linked genes encode > 17 proteins that directly control innate NK cell-mediated tumor lysis and disease resistance. Herein we show that Nkrp1 genes are clustered in a region flanked by A2m and Cd69 genes and that most Ly49 genes are clustered in a distal region -1 Mb distant. Importantly, syntenic intervals of mouse chromosome 6 and human chromosome 12p that include the NKC are conserved. NKC species conservation suggests that the human NKC may contain orthologues for the mouse viral disease resistance genes, Cmv1 and Rmp1. The high-resolution NKC map will facilitate investigation of NKC gene regulation and identification of phenotypically defined gene products that confer NK cell defense against viral pathogens.
    背景与目标: :我们在小鼠染色体6上构建了一个大于2-Mb区域的物理图,该区域包含自然杀手基因复合体(NKC)。该图包括14个重叠的酵母人工染色体的重叠群,我们在其上定位了25个NKC标记。 NKC遗传连锁基因编码> 17种蛋白质,这些蛋白质直接控制先天NK细胞介导的肿瘤溶解和疾病抵抗力。在本文中,我们显示Nkrp1基因聚集在A2m和Cd69基因侧翼的区域中,而大多数Ly49基因聚集在距离-1 Mb远的区域中。重要的是,保留了包含NKC的小鼠6号染色体和人类12p号染色体的同音间隔。 NKC物种保守性表明,人NKC可能含有小鼠病毒疾病抗性基因Cmv1和Rmp1的直向同源物。高分辨率的NKC图谱将有助于NKC基因调控的研究和表型定义的基因产物的鉴定,这些产物赋予NK细胞防御病毒病原体的能力。
  • 【鸽子中两个α-球蛋白基因alpha(A)和alpha(D)的分离和测序,以及α(D)-球蛋白基因的胚胎特异性表达的证据。】 复制标题 收藏 收藏
    DOI:10.1006/bbrc.1997.6667 复制DOI
    作者列表:Ikehara T,Eguchi Y,Kayo S,Takei H
    BACKGROUND & AIMS: :By screening a pigeon genomic DNA library, we isolated a recombinant phage clone containing the alpha(A)-globin gene. The DNA sequence of the approximately 6kbp-long insert fragment of the phage clone was determined. The sequence suggested the existence of pigeon alpha(D)-globin gene located 3.1 kbp upstream from the alpha(A)-globin gene. The expression of the alpha(D)-globin in late embryo was also shown by the N-terminal amino-acid sequence of the intact globin chain. These results show that two adult alpha-globin genes, alpha(A) and alpha(D), exist in the pigeon genome, and the alpha(D)-globin is expressed at the late embryo stage. The stage-specific expression suggests the existence of regulatory elements and factors interacting to inhibit transcription at the adult stage.
    背景与目标: :通过筛选鸽子基因组DNA文库,我们分离出了包含alpha(A)-globin基因的重组噬菌体克隆。确定了噬菌体克隆的约6kbp长的插入片段的DNA序列。该序列表明存在位于α(A)-球蛋白基因上游3.1 kbp处的鸽子α(D)-球蛋白基因。完整的球蛋白链的N-末端氨基酸序列也显示了晚期胚胎中α(D)-球蛋白的表达。这些结果表明,鸽子基因组中存在两个成年的α-球蛋白基因α(A)和α(D),并且α(D)-球蛋白在胚胎后期表达。该阶段特异性表达表明在成年阶段存在相互作用的调节元件和因子以抑制转录。
  • 【体内31P MRS评估更昔洛韦在稳定表达单纯疱疹胸苷激酶基因的C6胶质瘤中的毒性。】 复制标题 收藏 收藏
    DOI:10.1002/(SICI)1099-1492(199612)9:8<364::AID-NBM436 复制DOI
    作者列表:Stegman LD,Ben-Yoseph O,Freyer JP,Ross BD
    BACKGROUND & AIMS: :Phosphorus MRS was evaluated as a monitor of tumour therapeutic response to the herpes simplex virus thymidine kinase suicide gene therapy paradigm. In vivo 31P spectra were obtained from subcutaneous rat C6 gliomas constitutively expressing the HSVtk gene post treatment with ganciclovir (GCV, 15 mg/kg i.p., twice-daily). Significant regression (p < 0.1) of tumour volume was observed 10 days after beginning GCV administration. However, no changes in tumour pH or energy metabolites from pre-treatment values were observed. High-resolution 31P spectra of tumour extracts revealed a statistically significant reduction in the phosphocholine to phosphoethanolamine ratio six days post-GCV administration. These results indicate that the HSVtk/GCV-induced killing of tumours is not associated with corresponding changes in 31P MRS-observable energy metabolites and pH. The observed reduction in the PE/PC ratio may provide a non-invasive in vivo indicator of therapeutic efficacy.
    背景与目标: :磷MRS被评估为对单纯疱疹病毒胸苷激酶自杀基因治疗范例的肿瘤治疗反应的监测器。从更昔洛韦治疗后组成性表达HSVtk基因的皮下大鼠C6神经胶质瘤获得体内31P光谱(GCV,15 mg / kg i.p.,每天两次)。开始GCV给药10天后,观察到肿瘤体积显着消退(p <0.1)。但是,未观察到肿瘤pH值或能量代谢物相对于治疗前值的变化。肿瘤提取物的高分辨率31P光谱显示,GCV给药后六天,磷酸胆碱与磷酸乙醇胺的比率在统计学上显着降低。这些结果表明,HSVtk / GCV诱导的肿瘤杀伤与31P MRS可观察到的能量代谢产物和pH值的相应变化无关。所观察到的PE / PC比的降低可以提供治疗功效的非侵入性体内指标。

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