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自身免疫中的遗传成分:基于进化导向合理性的批判性综述

On genetic components in autoimmunity: a critical review based on evolutionarily oriented rationality.

作者信息

Epplen J T

机构信息

Molekulare Humangenetik, Ruhr-Universität, Bochum, Federal Republic of Germany.

出版信息

Hum Genet. 1992 Dec;90(4):331-41. doi: 10.1007/BF00220454.

DOI:10.1007/BF00220454
PMID:1483686
Abstract

The immune system furnishes the organism with the utmost effective defence mechanisms against "foreign" and changes in "self" without doing self-harm. However, optimized efficacy in the defence against the immense variety of "foreign" antigens generates a higher risk for inadvertent self challenge. Such inherent short-comings are the inevitable burden traded for the benefits of an optimally organized defence system. The central molecules involved in specific immune reactions include antigen receptors of B and T lymphocytes, and antigen-presenting proteins encoded by the major histocompatibility complex (MHC; in man HLA). The genetics and evolution of these multigene families is discussed here with respect to their potential contributions to disturbances of "self" recognition. Simple molecular biological tools and procedures for efficiently screening the immunologically relevant genes are described.

摘要

免疫系统为机体提供了针对“外来物”以及“自身”变化的最有效防御机制,且不会对自身造成伤害。然而,针对种类繁多的“外来”抗原的防御效能优化,会增加意外自我攻击的风险。这些内在的不足是为了获得组织优化的防御系统的益处而不可避免要付出的代价。参与特异性免疫反应的核心分子包括B淋巴细胞和T淋巴细胞的抗原受体,以及由主要组织相容性复合体(MHC;在人类中为HLA)编码的抗原呈递蛋白。本文将讨论这些多基因家族的遗传学和进化,以及它们对“自我”识别紊乱的潜在影响。还描述了有效筛选免疫相关基因的简单分子生物学工具和程序。

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Vb6 T-cell receptor elements in artiodactyls: conservation and germline polymorphisms.偶蹄目动物中的Vb6 T细胞受体元件:保守性与种系多态性
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本文引用的文献

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Methods for the study of histocompatibility genes.组织相容性基因的研究方法。
J Genet. 1948 Oct;49(2):87-108. doi: 10.1007/BF02986826.
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Novel members and germline polymorphisms in the human T-cell receptor Vb6 family.人类T细胞受体Vb6家族中的新成员和种系多态性
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The paradox of MHC-DRB exon/intron evolution: alpha-helix and beta-sheet encoding regions diverge while hypervariable intronic simple repeats coevolve with beta-sheet codons.MHC-DRB外显子/内含子进化的悖论:编码α螺旋和β折叠的区域发生分化,而高变内含子简单重复序列与β折叠密码子共同进化。
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Typing of artiodactyl MHC-DRB genes with the help of intronic simple repeated DNA sequences.借助内含子简单重复DNA序列对偶蹄目动物主要组织相容性复合体-DRB基因进行分型。
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Gene conversion between murine class II major histocompatibility complex loci. Functional and molecular evidence from the bm 12 mutant.小鼠II类主要组织相容性复合体基因座之间的基因转换。来自bm 12突变体的功能和分子证据。
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Restriction of in vitro T cell-mediated cytotoxicity in lymphocytic choriomeningitis within a syngeneic or semiallogeneic system.在同基因或半同种异体系统中淋巴细胞性脉络丛脑膜炎体外T细胞介导的细胞毒性的限制。
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