Experimental and clinical immunogenetics最新文献

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Genotyping Interleukin-10 High and Low Producers with Single-Tube Bidirectional Allele-Specific Amplification 用单管双向等位基因特异性扩增法分型白细胞介素-10高、低生产者

Experimental and clinical immunogenetics

Pub Date : 2001-04-01 DOI: 10.1159/000049184

J. Karhukorpi, R. Karttunen

A simple bidirectional allele-specific PCR method is described for determining the -1082 A and G alleles in the interleukin-10 (IL-10) promoter region. This polymorphism is associated with IL-10 production capacity, and it is thus interesting to see whether different infectious and autoimmune conditions are associated with it. With our method, the A and G alleles may be studied simultaneously in a single PCR reaction, as amplification of the different alleles is performed by using 3′-mismatched and partly overlapping allele-specific upstream and downstream primers around the -1082 site. The fast and simple method described here is especially suitable for large-scale association studies.

描述了一种简单的双向等位基因特异性PCR方法，用于测定白细胞介素-10 (IL-10)启动子区域的-1082 A和G等位基因。这种多态性与IL-10的生产能力有关，因此观察不同的感染和自身免疫性疾病是否与之相关是很有趣的。利用我们的方法，可以在一个PCR反应中同时研究A和G等位基因，因为不同等位基因的扩增是通过在-1082位点附近使用3 '错配和部分重叠的等位基因特异性上游和下游引物进行的。这里描述的快速和简单的方法特别适合于大规模的关联研究。

引用次数: 18

Interferon-Alpha Induces Transient Suppressors of Cytokine Signalling Expression in Human T Cells 干扰素- α诱导人T细胞细胞因子信号表达的瞬时抑制

Experimental and clinical immunogenetics

Pub Date : 2001-04-01 DOI: 10.1159/000049186

C. Brender, M. Nielsen, C. Röpke, M. Nissen, A. Svejgaard, N. Billestrup, C. Geisler, N. Ødum

The suppressors of cytokine signalling (SOCS) proteins comprise a newly identified family of negative feedback regulators of cytokine signalling. SOCS expression is differentially induced upon cytokine stimulation in different cell types. Here we show that interferon-α (IFNα) is a potent inducer of SOCS expression in human T cells, as high expression of CIS, SOCS-1, SOCS-2, and SOCS-3 was detectable after IFNα stimulation. After 4 h of stimulation, CIS, SOCS-1, and SOCS-3 expression had returned to baseline levels, whereas SOCS-2 expression had not declined. In contrast, after IL-2 induction neither CIS, SOCS-1, nor SOCS-2 expression levels declined after 6 h. In conclusion, we provide the first evidence that IFNα induces SOCS expression in human T cells. Moreover, we show that IFNα and IL-2 induce distinct patterns of expression kinetics, suggesting that dynamic changes in cytokine sensitivity might be mediated via induction of SOCS expression with different kinetics in T cells.

细胞因子信号传导抑制因子(SOCS)蛋白包括一个新发现的细胞因子信号传导负反馈调节因子家族。细胞因子刺激对不同细胞类型SOCS表达的诱导是不同的。本研究表明，干扰素α (IFNα)是人类T细胞中SOCS表达的有效诱导剂，在干扰素α刺激后，可以检测到CIS、SOCS-1、SOCS-2和SOCS-3的高表达。刺激4小时后，CIS、SOCS-1和SOCS-3的表达恢复到基线水平，而SOCS-2的表达没有下降。相比之下，IL-2诱导后6小时，CIS、SOCS-1和SOCS-2的表达水平均未下降。总之，我们首次提供了IFNα诱导人T细胞中SOCS表达的证据。此外，我们发现IFNα和IL-2诱导不同的表达动力学模式，这表明细胞因子敏感性的动态变化可能是通过诱导SOCS在T细胞中以不同的动力学表达来介导的。

引用次数: 46

Nomenclature of the Human Immunoglobulin Heavy (IGH) Genes 人重免疫球蛋白(IGH)基因命名法

Experimental and clinical immunogenetics

Pub Date : 2001-04-01 DOI: 10.1159/000049189

M. Lefranc

‘Nomenclature of the Human Immunoglobulin Heavy (IGH) Genes’, the 16th report of the ‘IMGT Locus in Focus’ section, provides the first complete list of all the human IGH genes. The total number of human IGH genes per haploid genome is 170–176 (206–212 genes, if the orphons and the processed gene are included), of which 77–84 genes are functional. IMGT/Human Genome Organization (HUGO) gene names and definitions of the human IGH genes on chromosome 14q32.33, processed gene on chromosome 9 and IGH orphons on chromosomes 15 and 16 are provided with the gene functionality and the number of alleles, according to the rules of the IMGT Scientific chart, with the accession numbers of the IMGT reference sequences and with the accession ID of the Genome Database GDB and NCBI LocusLink databases, in which all the IMGT human IGH genes have been entered. The tables are available at the IMGT Marie-Paule page of IMGT, the international ImMunoGeneTics database (http://imgt.cines.fr:8104) created by Marie-Paule Lefranc, Université Montpellier II, CNRS, France.

《Human Immunoglobulin Heavy (IGH) Genes的命名法》是“IMGT Locus in Focus”部分的第16篇报道，首次提供了所有人类IGH基因的完整列表。每个单倍体基因组的人类IGH基因总数为170-176个(如果包括孤儿和加工基因，则为206-212个)，其中77-84个基因是功能性的。IMGT/Human Genome Organization (HUGO)人类染色体14q32.33上的IGH基因、第9号染色体上的加工基因、第15号和第16号染色体上的IGH孤儿的基因名称和定义，根据IMGT科学图谱的规则，提供基因功能和等位基因数量，并提供IMGT参考序列的加入号，以及基因组数据库GDB和NCBI LocusLink数据库的加入ID。其中所有的IMGT人类IGH基因都已进入。这些表格可在国际免疫遗传学数据库IMGT的IMGT Marie-Paule页面(http://imgt.cines.fr:8104)上获得，该数据库由法国蒙彼利埃第二大学的Marie-Paule Lefranc创建。

引用次数: 91

Lack of FasL Expression in Cultured Human Retinal Pigment Epithelial Cells FasL在培养的人视网膜色素上皮细胞中缺乏表达

Experimental and clinical immunogenetics

Pub Date : 2001-01-01 DOI: 10.1159/000049085

C. G. Kæstel, H. Madsen, J. Prause, A. Jørgensen, Y. Liang, M. la Cour, G. Lui, N. Ødum, M. Nissen, C. Röpke

Retinal pigment epithelial (RPE) cells have been proposed to play a part in maintaining the eye as an immune privileged organ. However, our knowledge of the implicated mechanism is still sparse. Fas ligand (FasL) expression of RPE cells is generally recognized to be essential for the immune privilege of the eye, but due to contradictory published results, it is unclear whether RPE cells express this molecule. The purpose of this study was to investigate the expression of FasL in RPE cells in vitro and in vivo. Cultured human fetal and adult RPE cells were examined by flow cytometry, Western blotting, RT-PCR and RNase Protection assay for FasL expression. Additionally, sections of ocular tissue were stained for FasL by immunohistochemistry. None of the used methods indicated FasL expression in cultured fetal or adult RPE cells of various passages. However, RPE cells in vivo, as judged from tissue sections, were positive for FasL, indicating a discrepancy between RPE cells in vitro and in vivo with regard to this molecule.

视网膜色素上皮细胞(RPE)被认为在维持眼睛作为免疫特权器官中发挥作用。然而，我们对其机制的了解仍然很少。RPE细胞的Fas配体(FasL)表达通常被认为对眼睛的免疫特权至关重要，但由于发表的结果相互矛盾，目前尚不清楚RPE细胞是否表达该分子。本研究的目的是研究FasL在体外和体内RPE细胞中的表达情况。采用流式细胞术、Western blotting、RT-PCR和RNase Protection检测培养的人胎儿和成人RPE细胞中FasL的表达。此外，用免疫组织化学方法对眼组织切片进行FasL染色。不同传代培养的胎儿或成人RPE细胞中均无FasL表达。然而，从组织切片判断，体内RPE细胞FasL阳性，表明体外RPE细胞与体内RPE细胞对该分子的表达存在差异。

引用次数: 10

Can HLA Typing Predict the Outcome of Grass Pollen Immunotherapy? HLA分型能否预测草花粉免疫治疗的效果?

Experimental and clinical immunogenetics

Pub Date : 2001-01-01 DOI: 10.1159/000049083

A. Fleva, M. Daniilidis, J. Sidiropoulos, K. Adam, A. Tourkantonis, J. Daniilidis, L. Hadzipetrou

Objective: The aim of this study was to investigate the relationship between HLA molecules and the positive or negative response of atopic patients to specific immunotherapy (SIT). Methods: We studied 42 atopic multisensitive patients undergoing grass pollen immunotherapy, 42 parents of patients (30 mothers and 12 fathers) and 173 control individuals. HLA class I and class II antigens were typed by a microlymphocytotoxicity test. The typing of DRB1* alleles for atopic patients and their parents was based on the reverse hybridization principle, while for the control group, DNA-RFLP and PCR-SSP methods were used. Results: The frequency of B14 and DRB1*1101-4 antigens/alleles, as well as the A2B5DR11 haplotype, showed a statistically significant difference in those patients who responded to immunotherapy. On the other hand, HLA-A28, B8 and DRB1*0301 antigens/alleles, as well as the frequency of the A1B8 and A1B8DR3 haplotypes, were found to be significantly higher in patients who responded poorly to SIT. Discussion: Our findings support the hypothesis that treatment responsiveness may show an association to HLA molecules, which could thus play a role in the immunological selection and monitoring of atopic patient candidacy for SIT.

目的:探讨HLA分子与特异性免疫治疗(SIT)患者阳性或阴性反应的关系。方法:对42例接受草花粉免疫治疗的特应性多敏感患者，42例患者家长(30例母亲，12例父亲)和173例对照进行研究。用微淋巴细胞毒性试验分型HLAⅰ类和ⅱ类抗原。特应性患者及其父母DRB1*等位基因分型采用反向杂交原理，对照组采用DNA-RFLP和PCR-SSP方法。结果:免疫治疗应答组患者B14、DRB1*1101-4抗原/等位基因频率及A2B5DR11单倍型差异有统计学意义。另一方面，HLA-A28、B8和DRB1*0301抗原/等位基因以及A1B8和A1B8DR3单倍型的频率在SIT反应较差的患者中明显较高。讨论:我们的研究结果支持了治疗反应性可能与HLA分子相关的假设，这可能在免疫选择和监测特应性患者的候选性中发挥作用。

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引用次数: 6

Protein Phosphatase 2A Isotypes Regulate Cell Surface Expression of the T Cell Receptor 蛋白磷酸酶2A同型调节T细胞受体的细胞表面表达

Experimental and clinical immunogenetics

Pub Date : 2001-01-01 DOI: 10.1159/000049084

J. P. Lauritsen, C. Menné, J. Kastrup, J. Dietrich, C. Geisler

The mechanisms underlying T cell receptor (TCR) down-regulation have been extensively studied during the last decade. Whereas the importance of phosphorylation in this process has been established, it is less certain whether dephosphorylation plays a role in TCR down-regulation. In this study, we show that inhibition of the serine/threonine protein phosphatase PP2A family had a biphasic effect on TCR expression. Thus, low concentrations of PP2A inhibitors induced TCR down-regulation, whereas higher concentrations of PP2A inhibitors induced TCR up-regulation. The effect of PP2A inhibition was independent of phosphorylation of the CD3γ endocytosis motif. Whereas TCR down-regulation was caused by a partial inhibition of exocytosis, TCR up-regulation was caused by an inhibition of endocytosis. The effects on exocytosis and endocytosis were not restricted to the TCR, indicating a more general regulatory role for PP2A in both exocytosis and endocytosis.

在过去的十年中，人们对T细胞受体(TCR)下调的机制进行了广泛的研究。虽然磷酸化在这一过程中的重要性已经确立，但去磷酸化是否在TCR下调中发挥作用尚不确定。在本研究中，我们发现丝氨酸/苏氨酸蛋白磷酸酶PP2A家族的抑制对TCR表达有双相影响。因此，低浓度的PP2A抑制剂诱导TCR下调，而高浓度的PP2A抑制剂诱导TCR上调。抑制PP2A的作用与CD3γ内吞基序的磷酸化无关。TCR的下调是由胞吐的部分抑制引起的，而TCR的上调是由胞吞的抑制引起的。对胞吐和胞吞作用的影响并不局限于TCR，这表明PP2A在胞吐和胞吞作用中都有更普遍的调节作用。

引用次数: 6

Genomic Analysis of Idiopathic Infertile Patients with Sperm-Specific Depletion of CD46 精子特异性CD46缺失的特发性不孕症患者的基因组分析

Experimental and clinical immunogenetics

Pub Date : 2001-01-01 DOI: 10.1159/000049086

M. Nomura, M. Kitamura, K. Matsumiya, A. Tsujimura, A. Okuyama, M. Matsumoto, K. Toyoshima, T. Seya

Three infertile subjects with no expression of CD46 (membrane cofactor protein of complement) on their spermatozoa were found when screening 542 idiopathic male infertile patients. The sperm CD46 isoform was reported to be associated with the sperm-egg interaction, yet a ubiquitous expression of CD46 confers resistance to complement-mediated injury on host cells. All three patients expressed normal CD46 isoforms on their lymphocytes and granulocytes. Thus, the loss of CD46 is sperm-specific, probably due to testicular germ cell-specific regulation of CD46 production. Recently, a mechanism of the gene regulation of human CD46 was elucidated in which the silencer element of the 3′ UT and the promoter region of human CD46 gene partly participate. Here, we analyzed these regions of the CD46 gene in our 3 patients. We found no abnormality in 3′ and 5′ regions of the CD46 genome in the 3 patients. Thus, in these infertile patients sperm-specific depletion of CD46 is not governed by the so for identified regulators in the CD46 gene. Other unknown factors outside the known regulatory regions would play a role in the regulation of sperm-specific CD46 expression.

对542例特发性男性不育症患者进行筛查，发现3例精子CD46(补体膜辅助因子蛋白)不表达。据报道，精子CD46异构体与精子-卵子相互作用有关，但CD46的普遍表达赋予宿主细胞抵抗补体介导的损伤的能力。所有3例患者的淋巴细胞和粒细胞均表达正常的CD46亚型。因此，CD46的丢失是精子特异性的，可能是由于睾丸生殖细胞特异性调节CD46的产生。近年来，人类CD46基因的3′UT沉默元件和启动子区域部分参与了基因调控的机制被阐明。在这里，我们分析了3例患者的CD46基因的这些区域。我们在3例患者中未发现CD46基因组3 '和5 '区域的异常。因此，在这些不孕症患者中，CD46的精子特异性耗竭不受CD46基因中已确定的调节因子的影响。已知调控区域之外的其他未知因素可能在精子特异性CD46表达的调控中发挥作用。

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引用次数: 24

Immunoglobulin GM and KM allotypes in systemic lupus erythematosus. 系统性红斑狼疮的免疫球蛋白 GM 和 KM 异型。

Experimental and clinical immunogenetics

Pub Date : 2001-01-01 DOI: 10.1159/000049190

J P Pandey, G S Cooper, E L Treadwell, G S Gilkeson, E W St Clair, M A Dooley

Genetic variation in immunoglobulin gamma (GM) and kappa (KM) chains was associated with systemic lupus erythematosus (SLE) in some studies. However, the data are conflicting, and only one study examined associations in African-Americans. We examined GM and KM allotypes, by race, in a population-based case-control study of SLE. Sera from patients (n = 222) and controls (n = 273) were typed for GM and KM allotypes by a hemagglutination inhibition method. GM phenotypes were not significantly associated with SLE in African-Americans or Caucasians. However, the frequency of KM phenotypes in Caucasian patients was significantly different from that in controls (p = 0.032). KM3,3 was associated with an increased risk, whereas KM1,3 was associated with a lower relative risk of SLE. In African-Americans, however, the pattern of associations with KM phenotypes differed from that in Caucasians, and the overall difference between patients and controls was not statistically significant.

在一些研究中，免疫球蛋白γ（GM）链和卡帕（KM）链的遗传变异与系统性红斑狼疮（SLE）有关。然而，这些数据相互矛盾，只有一项研究考察了非裔美国人的相关性。我们在一项以人群为基础的系统性红斑狼疮病例对照研究中按种族检测了 GM 和 KM 所有型。通过血凝抑制法对患者（n = 222）和对照组（n = 273）的血清进行了 GM 和 KM 所有型的分型。在非裔美国人和白种人中，GM 表型与系统性红斑狼疮无明显关联。然而，白种人患者的 KM 表型频率与对照组有显著差异（p = 0.032）。KM3,3与系统性红斑狼疮的风险增加有关，而KM1,3与系统性红斑狼疮的相对风险降低有关。然而，在非裔美国人中，与 KM 表型相关的模式与白种人不同，患者和对照组之间的总体差异没有统计学意义。

引用次数: 0

Anti-fibrillin-1 autoantibodies in systemic sclerosis are GM and KM allotype-restricted. 系统性硬化症中的抗纤连蛋白-1自身抗体受GM和KM异型限制。

Experimental and clinical immunogenetics

Pub Date : 2001-01-01 DOI: 10.1159/000049191

J P Pandey, G P Page, R M Silver, E C LeRoy, C A Bona

GM and KM allotypes--genetic markers of immunoglobulin (Ig) gamma and kappa chains, respectively--have been shown to play an important role in genetic predisposition to some autoimmune diseases. To determine their role in susceptibility to systemic sclerosis (SSc; scleroderma) and in the generation of anti-fibrillin-1 antibodies, 148 SSc patients and 191 controls were typed for several GM and KM allotypes by a standard hemagglutination inhibition method. IgG and IgM antibodies to fibrillin-1 were measured by radioimmunoassay. GM and KM phenotypes were not significantly associated with SSc. However, these determinants significantly influenced the production of anti-fibrillin-1 antibodies in SSc patients. In Caucasians, GM1,3,17 23 5,13,21 and GM3 23 5,13 phenotypes were associated with the presence and absence of IgG autoantibodies, respectively. The production of these autoantibodies was also associated with KM allotypes, KM1,3 heterozygosity being associated with response and homozygosity for the KM3 allele with nonresponse to fibrillin-1. In African-Americans, the KM1 homozygotes were associated with the absence of anti-fibrillin-1 antibodies and the KM3 homozygotes with the presence of autoantibodies. In this ethnic group, the GM1,17 5,13 phenotype was associated with the absence of IgM autoantibodies. This represents the first description of genetic control of autoimmunity to fibrillin-1 in scleroderma.

免疫球蛋白（Ig）γ和卡帕链的遗传标记--GM和KM异型已被证明在某些自身免疫性疾病的遗传易感性中起着重要作用。为了确定它们在系统性硬化症（SSc；硬皮病）易感性和抗纤连蛋白-1抗体产生中的作用，148 名系统性硬化症患者和 191 名对照组采用标准血凝抑制法对几种 GM 和 KM 异型进行了分型。纤连蛋白-1的IgG和IgM抗体通过放射免疫分析法进行测定。GM和KM表型与SSc无明显关联。然而，这些决定因素会明显影响 SSc 患者体内抗纤维蛋白-1 抗体的产生。在白种人中，GM1,3,17 23 5,13,21和GM3 23 5,13表型分别与存在和不存在IgG自身抗体有关。这些自身抗体的产生也与 KM 异型有关，KM1,3 杂合子与对纤维素-1 的反应有关，而 KM3 等位基因的同源杂合子则与无反应有关。在非裔美国人中，KM1 等位基因与没有抗纤连蛋白-1 抗体有关，而 KM3 等位基因与出现自身抗体有关。在这个种族群体中，GM1,17 5,13 表型与无 IgM 自身抗体有关。这是首次描述硬皮病患者对纤维蛋白-1自身免疫的遗传控制。

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引用次数: 0

Molecular Analysis of Plasma α1,3-Fucosyltransferase Deficiency and Development of the Methods for Its Genotyping 血浆α1,3-聚焦转移酶缺乏的分子分析及其基因分型方法的发展

Experimental and clinical immunogenetics

Pub Date : 2001-01-01 DOI: 10.1159/000049082

Susumu Tanaka, S. Yazawa, Kasumi Noguchi, T. Nishimura, K. Miyanaga, N. Kochibe, D. Poland, W. van Dijk, K. Matta

Four patients with mental illness were found to be deficient in plasma α1,3-fucosyltransferase for the first time in Japan [Exp Clin Immunogenet 1999;16:125–130]. Complete sequencing of FUT6 genes in these individuals revealed the presence of two point mutations, i.e., G739 to A (Glu→247 to Lys) and C945 to A (Tyr→315 to stop). In addition to two reported alleles having G739 to A (pf1) and G739 to A and C945 to A (pf3), a new mutated allele having C945 to A (pf2) was found to be present and all the individuals who lack α1,3-fucosyltransferase activity in plasma were found to possess pf genes homozygously (pf/pf). In order to detect such lethal mutations in FUT6 genes easily, PCR-RFLP methods have also been developed and applied for the screening of FUT6 deficiency in a large number of samples which resulted in the demonstration of three additional FUT6-deficient individuals. The absence of α1,3-fucosylated molecules on α1-acid glycoprotein in plasma from all the 7 individuals was confirmed to result from the plasma α1,3-fucosyltransferase deficiency.

日本首次发现4例精神疾病患者血浆α1,3- focusyltransferase缺乏[Exp clinclinimmunogenet 1999; 16:25 - 130]。对这些个体的FUT6基因进行全测序，发现存在G739 to A (Glu→247 to Lys)和C945 to A (Tyr→315 to stop)两个点突变。除已报道的两个G739 to A (pf1)和G739 to A和C945 to A (pf3)等位基因外，还发现了一个新的突变等位基因C945 to A (pf2)，所有缺乏α1,3- focusyltransferase活性的个体均发现具有pf基因纯合(pf/pf)。为了方便检测FUT6基因的这种致命突变，PCR-RFLP方法也被开发出来，并应用于大量样本中筛选FUT6缺陷，结果又发现了3例FUT6缺陷个体。7例患者血浆中α1-酸糖蛋白上α1,3-聚焦分子缺失，证实是血浆α1,3-聚焦转移酶缺乏所致。

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引用次数: 12

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