遗传与系统性红斑狼疮:解剖一种复杂的遗传疾病。

T S Shaver, J B Harley, K L Moser
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引用次数: 0

摘要

SLE的病因似乎非常复杂,可能是异质性的,遗传和环境都有很大的贡献。潜在机制的示意图如图2所示。我们可能无法完全了解这种疾病的发病机制,直到我们解开每个组成部分对SLE发展的相对贡献。虽然与SLE相关的遗传机制仍然不清楚,但我们现在有了用于分析遗传位点的先进实验室技术,以及允许模拟和分析复杂遗传性状在多个家庭和人口统计学群体之间传播的计算机技术。剩下的艰巨任务是收集SLE的多家系,并分析这些家系内部和之间的多组临床、血清学和遗传数据。这样的研究目前正在进行中,有望增加对这种神秘而复杂的自身免疫性疾病的理解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Heredity and systemic lupus erythematosus: dissecting a complex genetic disease.

The etiology of SLE appears to be exceedingly complex and possibly heterogeneous, with genetics and environment both making substantial contributions. A schematic representation of potential mechanisms is depicted in Figure 2. We may not fully understand the pathogenesis of this disease until we unravel the relative contributions of each component to the development of SLE. While genetic mechanisms involved in SLE remain obscure, we now have available elegant laboratory techniques for analysis of genetic loci as well as computer technology which permits simulation and analysis of the transmission of complex genetic traits among multiple families and demographic groups. What remains is the painstaking task of collecting families multiplex for SLE and analyzing multiple sets of clinical, serologic, and genetic data within and between these pedigrees. Such studies are currently underway and will hopefully increase understanding of this enigmatic and complex autoimmune disorder.

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