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Nomenclature for factors of the HLA system, 2002. HLA系统因子命名法,2002。
S. Marsh, E. Albert, W. Bodmer, R. Bontrop, B. Dupont, H. Erlich, D. Geraghty, J. Hansen, B. Mach, W. Mayr, P. Parham, E. Petersdorf, T. Sasazuki, G. Schreuder, J. Strominger, A. Svejgaard, P. Terasaki
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引用次数: 1
Nomenclature for factors of the HLA system, update December 2001. HLA系统因子的命名法,2001年12月更新。
S. Marsh
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引用次数: 0
Nomenclature for factors of the HLA System, update July 2001. HLA系统因子命名法,2001年7月更新。
S. Marsh
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引用次数: 1
Mouse cytokine gene nucleotide sequence alignments, 2000. Part IV. 2000 年小鼠细胞因子基因核苷酸序列排列。第四部分.
G J Laundy, J L Bidwell
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引用次数: 0
DRB1 alleles in polymyalgia rheumatica and rheumatoid arthritis in southern France 法国南部风湿性多肌痛和类风湿性关节炎的DRB1等位基因
D. Reviron, C. Foutrier, S. Guis, P. Mercier, J. Roudier
To investigate the association of HLA-DRB1 alleles with polymyalgia rheumatica (PMR) and rheumatoid arthritis (RA), 55 patients with PMR without giant cell arteritis, 203 patients with RA and 230 controls, all from the European population of Marseille, were HLA-DRB1 genotyped by PCR-SSO. HLA-DRB1*01 was significantly increased in both the PMR and RA groups compared to controls (35% versus 17%, Pc < 0.05, and 41% versus 17%, Pc < 0.001, respectively). HLA-DRB1*04 was significantly increased in the RA group compared to controls (48% versus 23%, Pc < 0.001) but not in the PMR group. HLA-DRB1*04 subtype frequencies were significantly different between PMR patients and RA patients. Shared epitope-positive HLA-DRB1*04 alleles (DRB1*0401, 0404, 0405, 0408) were significantly overrepresented in RA patients compared to PMR patients and shared epitope-negative HLA-DRB1*04 alleles were overrepresented in PMR patients compared to RA patients. In conclusion, in the Mediterranean population studied, HLA-DRB1*01 is associated with RA and PMR whereas HLA-DRB1*04 is associated with RA only.
为了研究HLA-DRB1等位基因与风湿性多肌痛(PMR)和类风湿性关节炎(RA)的关系,来自马赛欧洲人群的55例无巨细胞动脉炎的PMR患者,203例RA患者和230例对照患者通过PCR-SSO进行了HLA-DRB1基因分型。与对照组相比,PMR组和RA组HLA-DRB1*01显著升高(分别为35%比17%,Pc < 0.05, 41%比17%,Pc < 0.001)。与对照组相比,RA组HLA-DRB1*04显著升高(48%对23%,Pc < 0.001),而PMR组则无显著升高。HLA-DRB1*04亚型频率在PMR患者和RA患者之间存在显著差异。与PMR患者相比,共享表位阳性HLA-DRB1*04等位基因(DRB1*0401, 0404, 0405, 0408)在RA患者中显著高于PMR患者,共享表位阴性HLA-DRB1*04等位基因在PMR患者中高于RA患者。总之,在研究的地中海人群中,HLA-DRB1*01与RA和PMR相关,而HLA-DRB1*04仅与RA相关。
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引用次数: 12
A new coding region polymorphism of human IgLC2 人类IgLC2编码区多态性的新发现
J. Naud, D. Gibson
A new allelic form of the human IgLC2 gene is described. The marker involves a T to C substitution in the C lambda 2 constant region gene, a silent substitution at amino acid coding position 178 (YAASSYLSL) and two substitutions in the 3'-flanking region. Analysis of IgLC2 alleles in a total of 60 individuals has indicated a frequency of 0.32 for the new allele, which has been designated IgLC2*B2. The *B1 and *B2 alleles encode T and C, respectively, at nucleotide position 212 in the IgLC2 coding region. Both the *B1 and *B2 alleles are found in individuals homozygous for the single-copy RFLP allele of IgLC2/IgLC3 (8 kb EcoRI). Knowledge of alleles of this marker will be important for studies on the expression of the IgLC2 and IgLC3 isotypes in normal and autoimmune lymphocyte populations, as the coding regions of the two isotypes differ only at this position. The marker will also be useful in further studies of linkage with other IgLV and IgLC markers and to establish possible correlations with susceptibility to autoimmune disorders.
描述了人类IgLC2基因的一个新的等位基因形式。该标记涉及C lambda 2恒定区基因的T到C替换,氨基酸编码位置178 (YAASSYLSL)的沉默替换和3'侧区的两个替换。对60个个体的IgLC2等位基因的分析表明,新等位基因的频率为0.32,被命名为IgLC2*B2。*B1和*B2等位基因分别在IgLC2编码区核苷酸第212位编码T和C。*B1和*B2等位基因均存在于IgLC2/IgLC3单拷贝RFLP等位基因纯合的个体中(8 kb EcoRI)。了解该标记的等位基因对于研究IgLC2和IgLC3同型在正常和自身免疫淋巴细胞群体中的表达非常重要,因为这两种同型的编码区仅在这个位置不同。该标记也将有助于进一步研究与其他IgLV和IgLC标记的联系,并确定与自身免疫性疾病易感性的可能相关性。
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引用次数: 0
Association of vitamin D receptor genotypes with early onset rheumatoid arthritis. 维生素D受体基因型与早发性类风湿关节炎的关系
J. García-Lozano, M. González-Escribano, A. Valenzuela, Alicia García, A. Nunez‐roldan
The presence of certain vitamin D receptor (VDR) genotypes has been associated with low bone mineral density (BMD) in elderly populations as well as with accelerated bone loss in patients with rheumatoid arthritis (RA). In the present study, VDR genotypes from 120 Spanish patients with RA were investigated. Three VDR gene polymorphisms (BsmI, ApaI and TaqI) were investigated using polymerase chain reaction followed by enzymatic digestion. The distributions of VDR allelic frequencies were similar in patients and controls and therefore no influence of VDR polymorphisms on rheumatoid arthritis susceptibility could be demonstrated. However, in an analysis of the clinical features of the different VDR-related genetic subgroups, the BB/tt genotype, defined by the BsmI and TaqI restriction site polymorphisms, was identified to be weakly associated with an early onset RA in female patients. This VDR genotype has been associated with a low BMD level in various studies. When patients were stratified according to the presence of the shared HLA epitope SE, it was found that SE + female patients bearing the BB/tt genotype showed the earliest disease onset. The mechanisms by which the VDR polymorphism is associated with RA is unknown, but they could be related to the immunoregulatory properties of vitamin D.
某些维生素D受体(VDR)基因型的存在与老年人群的低骨密度(BMD)以及类风湿性关节炎(RA)患者的加速骨质流失有关。在本研究中,研究了120名西班牙RA患者的VDR基因型。采用聚合酶链反应和酶切法对3个VDR基因多态性(BsmI、ApaI和TaqI)进行了研究。患者和对照组的VDR等位基因频率分布相似,因此未发现VDR多态性对类风湿关节炎易感性的影响。然而,在对不同vdr相关遗传亚群的临床特征分析中,由BsmI和TaqI限制性内切位点多态性定义的BB/tt基因型与女性患者早发性RA的相关性较弱。在各种研究中,这种VDR基因型与低骨密度水平有关。根据是否存在共同的HLA表位SE对患者进行分层,发现BB/tt基因型SE +的女性患者发病最早。VDR多态性与RA相关的机制尚不清楚,但它们可能与维生素D的免疫调节特性有关。
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引用次数: 76
A single nucleotide polymorphism at position --109 of the RANTES proximal promoter. RANTES近端启动子-109位的单核苷酸多态性。
M. Azzawi, V. Pravica, P. Hasleton, I. Hutchinson
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引用次数: 7
Nomenclature for factors of the HLA system, update June 2001. HLA系统因子的命名法,2001年6月更新。
S. Marsh
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引用次数: 0
Nomenclature for factors of the HLA System, update August 2001. HLA系统因子命名法,2001年8月更新。
S. Marsh
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引用次数: 0
期刊
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics
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