系统性红斑狼疮的遗传学。

C A Roberton, T J Vyse
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引用次数: 9

摘要

背景:人类系统性红斑狼疮(SLE)具有遗传易感性。导致易感性的基因在很大程度上是未知的。新的基因定位技术的引入,开辟了探索狼疮遗传学在全基因组的基础上。方法:微卫星是广泛分布于真核生物基因组中的简单重复序列。它们表现出长度变化。这种多态性可以用来提供全基因组标记。因此,与狼疮相关的位点已在易患狼疮的小鼠品系和最近发表的多病例人类家庭研究中被绘制出来。结果:目前已有超过20个非mhc(主要组织相容性复合体)位点与小鼠狼疮有关。9个非mhc基因座已在人类SLE中得到证实。一些小鼠的间隔与人类的位点是同步的,这增加了共同易感基因的可能性。虽然我们还在等待正式的基因鉴定结果,但回交和同源分析的功能研究表明,至少在小鼠中,疾病基因在疾病发展的多个层面上起作用。结论:大量基因参与SLE的发病机制。数据还表明,甚至MHC的贡献也是多重的。绘制了疾病基因座后,遗传学家现在面临的任务是关闭实际的致病等位基因,并展示它们可能如何运作。这项工作将大大增加我们对疾病发展的理解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The genetics of systemic lupus erythematosus.

Background: There is a genetic predisposition to human systemic lupus erythematosus (SLE). The genes that contribute to susceptibility are, for the most part, unknown. The introduction of new gene mapping techniques has opened the way to explore lupus genetics on a genome-wide basis.

Methods: Microsatellites are simple sequence repeats widely distributed throughout eukaryotic genomes. They exhibit length variation. This polymorphism can be exploited to provide a panoply of genome-wide markers. Thereby, loci linked with lupus have been mapped in lupus-prone mouse strains and in recently published studies in multi-case human families.

Results: More than 20 non-MHC (major histocompatibility complex) loci have now been linked with murine lupus. Nine non-MHC loci have been corroborated in human SLE. Some of the mouse intervals are syntenic with human loci raising the tantalizing possibility of common susceptibility genes. Although we await the results of formal gene identification, functional studies in back-cross and congenic analyses indicate that, in the mouse at least, disease genes act at multiple levels in disease development.

Conclusions: A large number of genes are involved in the pathogenesis of SLE. The data also suggest that even the MHC contribution is multiple. Having mapped disease loci, geneticists now face the task of closing down on the actual aetiological alleles and demonstrating how they might operate. This undertaking will add significantly to our understanding of disease development.

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