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Simultaneous evaluation of T- and B-cell clonality, t(11;14) and t(14;18), in a single reaction by a four-color multiplex polymerase chain reaction assay and automated high-resolution fragment analysis - A method for the rapid molecular diagnosis of lymphoproliferative disorders applicable to fresh frozen and formalin-fixed, paraffin-embedded tissues, blood, and bone marrow aspirates

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AMERICAN JOURNAL OF PATHOLOGY 2001年第6期159卷 2031-2043页

作者： Meier, VS Rufle, A Gudat, F Univ Basel Inst Pathol Basel Switzerland

Current polymerase chain reaction (PCR) methods for the molecular diagnosis of B- and T-cell lymphomas by determination of clonality of immunoglobulin heavy chain (IgH) and T-cell receptor-gamma rearrangements and by detection of the chromosomal translocations t(14;18) and t(11;14), require several laborious and costly PCR assays for each of these diagnostic tests. We have developed a multiplex PCR assay for the simultaneous determination of B- and T-cell clonality and the detection of the chromosomal translocations t(14;18) and t(11;14) in a single reaction, using four-color fluorescence and automated high-resolution fragment analysis. The 26 primers combined in the multiplex PCR correspond to the sequences of > 90% of the 69 variables and 6 join IgH genes and 100% of the T-cell receptor-gamma variables and join genes that could participate in the respective rearrangements. In addition, they detect the major and the minor breakpoint regions of the t(14;18) and the major breakpoint region of the t(11;14), and amplify the beta -globin gene as an internal control. The specificity of the multiplex PCR was confirmed by analysis of 39 T-cell lymphomas and 58 B-cell lymphomas, including 11 mantle cell lymphomas bearing the t(11;14) and 25 follicular lymphomas bearing the t(14;18), with known rearrangements and/or translocations. Fifteen samples of reactive lymphadenitis remained negative.

关键词： B淋巴细胞/代谢 B淋巴细胞/病理学碱基序列活组织检查针吸骨髓/病理学染色体人 11对/遗传学染色体人 14对/遗传学染色体人 18对/遗传学克隆细胞 DNA/化学 DNA/遗传学固定剂甲醛冷冻切片基因重排基因 T细胞受体γ/遗传学免疫球蛋白重链/遗传学 Jurkat细胞淋巴瘤 T细胞/遗传学淋巴瘤 T细胞/病理学淋巴组织增殖性疾病/血液淋巴组织增殖性疾病/诊断淋巴组织增殖性疾病/遗传学分子序列数据石蜡包埋聚合酶链反应/方法序列分析 DNA 序列同源性核酸 T淋巴细胞/代谢 T淋巴细胞/病理学组织固定易位遗传肿瘤细胞培养的人类

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Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: A dominant or recessive disease?

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PEDIATRIC RESEARCH 2000年第3期47卷 336-343页

作者： van der Burg, M de Groot, R Comans-Bitter, WM den Hollander, JC Hooijkaas, H Neijens, HJ Berger, RMF Oranje, AP Langerak, AW van Dongen, JJM Erasmus Univ Dept Immunol NL-3000 DR Rotterdam Netherlands Erasmus Univ Dept Pathol NL-3000 DR Rotterdam Netherlands Erasmus Univ Dept Dermatol NL-3000 DR Rotterdam Netherlands Univ Rotterdam Hosp Rotterdam Netherlands Sophia Childrens Hosp Univ Hosp Rotterdam Div Pediat Infect Dis & Immunol Dept Pediat Rotterdam Netherlands Sophia Childrens Hosp Univ Hosp Rotterdam Div Pediat Cardiol Dept Pediat Rotterdam Netherlands

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune features and lymphoproliferations and is generally caused by defective Fas-mediated apoptosis. This report describes a child with clinical features of ALPS without detectable Fas expression on freshly isolated blood leukocytes. Detection of FAS transcripts via real-time quantitative PCR made a severe transcriptional defect unlikely. Sequencing of the FAS gene revealed a 20-nucleotide duplication in the last exon affecting the cytoplasmic signaling domain. The patient was homozygous for this mutation, whereas the consanguineous parents and the siblings were heterozygous. The patient reported here is a human homologue of the Fas-null mouse, inasmuch as she carries an autosomal homozygous mutation in the FAS gene and she shows the severe and accelerated ALPS phenotype. The heterozygous family members did not have the ALPS phenotype, indicating that the disease-causing FAS mutation in this family is autosomal recessive.

关键词：自身免疫疾病/遗传学自身免疫疾病/免疫学碱基序列近亲 DNA引物外显子基因显性基因隐性免疫表型分型淋巴组织增殖性疾病/遗传学淋巴组织增殖性疾病/免疫学 RNA 信使/遗传学女(雌)性人类婴儿新生

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Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease

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BLOOD 2000年第9期96卷 3118-3125页

作者： Sumegi, J Huang, DL Lanyi, A Davis, JD Seemayer, TA Maeda, A Klein, G Seri, M Wakiguchi, H Purtilo, DT Gross, TG Univ Nebraska Nebraska Med Ctr 985454 Dept Pathol & MicrobiolCtr Human Mol Genet Eppley Inst Res Canc & Allied Dis Omaha NE 68198 USA Univ Nebraska Med Ctr Dept Pathol & Microbiol Omaha NE 68198 USA Univ Nebraska Med Ctr Dept Pediat Omaha NE 68198 USA Karolinska Inst Ctr Microbiol & Tumorbiol Stockholm Sweden Inst Giannina Gaslini Mol Genet Lab Genoa Italy Kochi Med Sch Dept Pediat Nankoku Kochi Japan Childrens Hosp Med Ctr Div Hematol & Oncol Cincinnati OH 45229 USA

The purposes of this study were to determine the frequency of mutations in SH2D1A in X-linked lymphoproliferative disease (XLP) and the role of SH2D1A mutations and Epstein-Barr virus (EBV) infection in determining the phenotype and outcome of patients with XLP. Analysis of 35 families from the XLP Registry revealed 28 different mutations in 34 families-large genomic deletions (n = 3), small intragenic deletions(n = 10), splice-site (n = 3), nonsense (n = 3), and missense (n = 9) mutations. No mutations were found in 25 males, so-called sporadic XLP (males with an XLP phenotype after EBV infection but no family history of XLP) or in 9 patients with chronic active EBV syndrome. Of 304 symptomatic males in the XLP Registry, 38 had no evidence of EBV infection at first clinical manifestation, When fulminant infectious mononucleosis (FIM) was excluded, there was no statistical difference in the frequency of EBV infectivity In the other XLP phenotypes. Furthermore, there was no difference at age of first clinical manifestation between EBV+ and EBV- males or in survival when patients with FIM were excluded. In conclusion, it was found that mutations in the SH2D1A gene are responsible for XLP but that there is no correlation between genotype and phenotype or outcome. It was also found that though EBV infection often results in FIM, it is unnecessary for the expression of other manifestations of XLP, and it correlates poorly with outcome. These results suggest that unidentified factors, either environmental or genetic (eg, modifier genes), contribute to the pathogenesis of XLP. (C) 2000 by The American Society ct Hematology.

关键词：选择性剪接氨基酸序列载体蛋白质类/遗传学染色体图爱泼斯坦巴尔病毒感染/并发症外显子遗传标记细胞内信号肽和蛋白质类内含子淋巴组织增殖性疾病/遗传学淋巴组织增殖性疾病/病毒学分子序列数据突变突变误义系谱表型多态性限制性片段长度试验预期值预后逆转录聚合酶链反应序列比对序列缺失序列同源性氨基酸 X染色体 src同源域女(雌)性人类男(雄)性

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TP53 deletions but not trisomy 12 are adverse in B-cell lymphoproliferative disorders

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CANCER GENETICS AND CYTOGENETICS 2000年第2期119卷 146-154页

作者： Shaw, GR Kronberger, DL Marshfield Clin Fdn Med Res & Educ Dept Pathol Marshfield WI 54449 USA

Abnormalities of the TP53 tumor suppressor gene at 17p13.1 are prognostically adverse in a variety of hematolymphoid malignancies. The present study utilized interphase fluorescence in situ hybridization (I-FISH) to detect TP53 deletions and trisomy 12 in 101 clinical specimens from 98 patients with B-cell lymphoproliferative disorders (B-LPDs). Twelve patients had TP53 deletions (group A), 23 had trisomy 12 (group B), and 63 had neither(group C). The groups did not significantly differ in age, duration of disease, absolute lymphocyte count, or percentage with an immunophenotype or cytology atypical for chronic lymphocytic leukemia (CLL). The clinical stage of disease and lactate dehydrogenase (LDH) level were higher in group A, with less response to therapy. After a median follow-up of 19 months, seven of the patients in group A had died of disease (another patient subsequently has had large cell transformation) compared with none in group B and nine in group C. Multivariate analysis found the stage of disease and TP53 deletions as the only parameters independently associated with shortened survival (P < 0.001). Thirty-nine patients had conventional cytogenetic analysis (CCA) which was complexly abnormal in 11 patients;6 of whom died of disease. There was a trend for complex cytogenetics to be seen more frequently in group A, often with 17p involvement. For most laboratories, CCA may be the preferable initial study to identify prognostically different subgroups of B-LPDs. However, as more probes and clinical outcome data become available, I-FISH will likely play an increasingly important ancillary role. (C) 2000 Elsevier Science Inc. All rights reserved.

关键词：染色体人 12对/遗传学染色体人 17对/遗传学基因缺失基因 p53 疾病遗传易感性免疫表型分型 L-乳酸脱氢酶/血液白血病淋巴细胞慢性 B细胞/血液白血病淋巴细胞慢性 B细胞/遗传学白血病淋巴细胞慢性 B细胞/死亡率寿命表淋巴细胞计数淋巴瘤 B细胞/血液淋巴瘤 B细胞/遗传学淋巴瘤 B细胞/死亡率淋巴组织增殖性疾病/血液淋巴组织增殖性疾病/遗传学淋巴组织增殖性疾病/死亡率肿瘤蛋白质类/血液肿瘤分期预后存活率分析三体性 Waldenstrom巨球蛋白血症/血液 Waldenstrom巨球蛋白血症/遗传学 Waldenstrom巨球蛋白血症/死亡率成年人老年人老年人 80以上女(雌)性人类男(雄)性中年人

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Simultaneous presence of t(2;8)(p12;q24) and t(14;18) (q32;q21) in a B-cell lymphoproliferative disorder with features suggestive of an aggressive variant of splenic marginal-zone lymphoma

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CANCER GENETICS AND CYTOGENETICS 2000年第2期120卷 136-140页

作者： Batanian, JR Dunphy, CH Richart, JM Petruska, PJ Perkins, SL St Louis Univ Cardinal Glennon Childrens Hosp Dept Pediat Pediat Res Inst St Louis MO 63104 USA St Louis Univ Sch Med Dept Pediat St Louis MO 63104 USA St Louis Univ Sch Med Dept Pathol St Louis MO 63104 USA St Louis Univ Sch Med Dept Internal Med St Louis MO USA Univ Utah Hlth Sci Ctr Div Anat Pathol Salt Lake City UT USA

We report a case of an aggressive variant of splenic marginal-zone lymphona (SMZL) with circulating villous lymphocytes. The karyotype of all examined cells bad multiple structural and numerical abnormalities, including two lymphoma characteristic translocations, t(2;8)(p12;q24) and t(14;18)(q32;q21). Based on a literature review of cytogenetic aberrations of splenic lymphoma with villous lymphocytes (SLVL) and SMZL, this is apparently the first documentation of these two translocations in a case of SMZL, and could reflect the heterogeneity of the disorder. (C) 2000 Elsevier Science Inc. All rights reserved.

关键词：染色体人 14对/遗传学染色体人 18对/遗传学染色体人 2对/遗传学染色体人 8对/遗传学诊断鉴别免疫表型分型核型分析淋巴瘤 B细胞/遗传学淋巴瘤 B细胞/免疫学淋巴瘤 B细胞/病理学淋巴组织增殖性疾病/遗传学淋巴组织增殖性疾病/免疫学淋巴组织增殖性疾病/病理学脾肿瘤/遗传学脾肿瘤/免疫学脾肿瘤/病理学易位遗传老年人女(雌)性人类

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Expression of interferon consensus sequence binding protein (ICSBP) is downregulated in Bcr-Abl-induced murine chronic myelogenous leukemia-like disease, and forced coexpression of ICSBP inhibits Bcr-Abl-induced myeloproliferative disorder

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MOLECULAR AND CELLULAR BIOLOGY 2000年第4期20卷 1149-1161页

作者： Hao, SX Ren, RB Brandeis Univ Rosenstiel Basic Med Sci Res Ctr Dept Biol Waltham MA 02454 USA

Chronic myelogenous leukemia (CML) is a clonal myeloproliferative disorder resulting from the neoplastic transformation of a hematopoietic stem cell. The majority of cases of CML are associated with the (9;22) chromosome translocation that generates the bcr-abl chimeric gene. Alpha interferon (IFN-alpha) treatment induces hematological remission and prolongs life in 75% of CML patients in the chronic phase. It has been shown that mice deficient in interferon consensus sequence binding protein (ICSBP), a member of the interferon regulatory factor family, manifest a CML-like syndrome. We have shown that expression of Bcr-Abl in bone marrow (BM) cells from 5-fluorouracil (5-FU)-treated mice by retroviral transduction efficiently induces a myeloproliferative disease in mice resembling human CML. To directly test whether icsbp can function as a tumor suppressor gene, we examined the effect of ICSBP on Bcr-Abl-induced CML-like disease using this murine model for CML. We found that expression of the ICSBP protein was significantly decreased in Bcr-Abl-induced CML-like disease. Forced coexpression of ICSBP inhibited the Bcr-Abl-induced colony formation of BM cells from 5-FU-treated mice in vitro and Bcr-Abl-induced CML-like disease in vivo. Interestingly, coexpression of ICSBP and Bcr-Abl induced a transient B-lymphoproliferative disorder in the murine model of Bcr-Abl-induced CML-like disease. Overexpression of ICSBP consistently promotes rather than inhibits Bcr Abl-induced B lymphoproliferation in a murine model where BM cells from non-5-FU-treated donors were used, indicating that ICSBP has a specific antitumor activity toward myeloid neoplasms. We also found that overexpression of ICSBP negatively regulated normal hematopoiesis. These data provide direct evidence that ICSBP can act as a tumor suppressor that regulates normal and neoplastic proliferation of hematopoietic cells.

关键词：抗代谢药抗肿瘤/药理学 B淋巴细胞/病理学碱基序列骨髓移植集落形成单位测定共有序列 DNA引物/遗传学疾病模型动物减量调节氟尿嘧啶/药理学基因 abl 血细胞生成/遗传学干扰素调节因子类干扰素类/代谢白血病髓系慢性 BCR-ABL阳性/遗传学白血病髓系慢性 BCR-ABL阳性/代谢白血病髓系慢性 BCR-ABL阳性/病理学淋巴组织增殖性疾病/病因学淋巴组织增殖性疾病/遗传学小鼠近交BALBC 骨髓增殖性疾病/遗传学骨髓增殖性疾病/预防和控制阻遏蛋白质类/遗传学阻遏蛋白质类/代谢易位遗传动物人类男(雄)性小鼠

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Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

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BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 2000年第1期269卷 124-130页

作者： Lappalainen, I Giliani, S Franceschini, R Bonnefoy, JY Duckett, C Notarangelo, LD Vihinen, M Univ Tampere Inst Med Technol FIN-33014 Tampere Finland Tampere Univ Hosp FIN-33520 Tampere Finland Univ Helsinki Dept Biosci Div Biochem FIN-00014 Helsinki Finland Univ Brescia Spedali Civili Pediat Clin Lab Med Mol Angelo Nocivelli Brescia Italy Ctr Immunol Pierre Fabre 5 F-74164 St Julien en Genevois France NCI Metab Branch NIH Bethesda MD 20892 USA

X-linked lymphoproliferative disease (XLP) is a rare and severe immune deficiency, characterized by abnormal immune responses to the Epstein-Barr virus. Recently, the gene responsible for XLP, SH2D1A, has been identified and shown to code for a small cytoplasmic protein with an SH2 domain that interacts with SLAM and 2B4, two receptorial molecules involved in signal transduction in T and NK cells, respectively. A variety of SH2D1A gene mutations have been reported thus far in XLP males. Here we describe a single-strand conformation polymorphism assay for mutation analysis in XLP. Four novel patients with SH2D1A. mutations are described. These mutants, and the others previously reported in the literature, have been included in a Registry (SH2D1Abase) that is fully accessible on the World Wide Web. A three-dimensional model of the SH2 domain of the SH2D1A protein has been developed, based on homology with other SH2 domains. The structural consequences of disease-causing SH2D1A mutations are discussed. (C) 2000 Academic Press.

关键词：氨基酸序列碱基序列结合部位/遗传学载体蛋白质类/化学载体蛋白质类/遗传学保守序列 DNA引物/遗传学细胞内信号肽和蛋白质类淋巴组织增殖性疾病/遗传学模型分子分子序列数据突变多态现象单链构象蛋白质构象序列同源性氨基酸 X染色体/遗传学 src同源域/遗传学人类男(雄)性

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By any other name

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JOURNAL OF PEDIATRICS 2000年第5期136卷 576-577页

作者： Accardo, PJ Roseman, B New York Med Coll Westchester Inst Human Dev Valhalla NY 10595 USA

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The gene defective in X-linked lymphoproliferative disease controls T cell dependent immune surveillance against Epstein-Barr virus

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CURRENT OPINION IN IMMUNOLOGY 2000年第4期12卷 474-478页

作者： Howie, D Sayos, J Terhorst, C Morra, M Harvard Univ Beth Israel Hosp Sch Med Div Immunol Boston MA 02215 USA

Our understanding of the X-linked lymphoproliferative syndrome (XLP) has advanced significantly in the past two years. The gene that is aberrant in the condition SH2D1A/SAP, which encodes SAP (signaling lymphocytic activation molecule [SLAM]-associated protein) - was cloned, the crystal structure of its product was solved and insights into the signaling mechanisms of this small SH2-domain-containing protein via the cell surface receptors SLAM and 2B4 have been provided. SAP mutation, and not Epstein-Barr virus infection per se, may be critical for XLP.

关键词：抗原 CD 载体蛋白质类/遗传学载体蛋白质类/免疫学克隆分子基因缺失糖蛋白类/免疫学疱疹病毒4型人/免疫学免疫球蛋白类/免疫学细胞内信号肽和蛋白质类淋巴组织增殖性疾病/遗传学淋巴组织增殖性疾病/免疫学淋巴组织增殖性疾病/病毒学受体抗原 T细胞/免疫学受体细胞表面 T淋巴细胞/免疫学人类

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Perforin: more than just an effector molecule

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IMMUNOLOGY TODAY 2000年第6期21卷 254-256页

作者： Stepp, SE Mathew, PA Bennett, M de Saint Basile, G Kumar, V Univ Texas SW Med Ctr Grad Program Immunol Dallas TX 75235 USA UNT Hlth Sci Ctr Dept Mol Biol & Immunol Ft Worth TX 76107 USA Univ Texas SW Med Ctr Dept Pathol Dallas TX 75235 USA INSERM Unite Rech Dev Normal & Pathol Syst Immunitaire U429 Paris France Univ Chicago Sch Med Dept Pathol Chicago IL 60637 USA

Perforin mediates the destruction of virus-infected or transformed cells. However, the finding that perforin deficiency is the underlying cause of familial hemaphagocytic lymphohistiocytosis indicates that it also reg... 详细信息

关键词：自身免疫疾病/遗传学自身免疫疾病/免疫学自身免疫染色体人 10对/遗传学细胞质颗粒/分泌细胞毒性免疫 Fas配体蛋白质反馈组织细胞增多症非郎格尔汉斯细胞/遗传学杀伤细胞天然/免疫学淋巴细胞活化淋巴细胞性脉络丛脑膜炎/免疫学淋巴细胞性脉络丛脑膜炎病毒/生理学淋巴组织增殖性疾病/遗传学淋巴组织增殖性疾病/免疫学膜糖蛋白类/缺乏膜糖蛋白类/遗传学膜糖蛋白类/免疫学膜糖蛋白类/生理学小鼠近交C57BL 小鼠近交MRLlpr 小鼠基因敲除成孔毒素蛋白质类 T淋巴细胞细胞毒性/免疫学病毒潜伏期动物儿童学龄前人类婴儿小鼠

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