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自身免疫病影响着大约 5 %的人口 ,这类疾病的特点是患者体内存在大量的针对自身抗原的自身抗体 ,这些自身抗体通过不同的模式引起机体的损伤。一些严重的自身免疫病如类风湿性关节炎、系统性红斑狼疮可引起致残和死亡。总之 ,自身免疫病的发病率和致残率呈现出一个全球性的健康问题。由于这种健康问题巨大的严重性和广泛性 ,引起了全球性的自身免疫病病因学的研究热潮。多代家系和大量双胞胎的流行病学调查清晰的显示自身免疫病遗传因素的存在。至少有 2 0多个疾病易感基因被认为与环境因素相互作用引起自身免疫病的发生和发展。基于这种遗传研究热潮 ,多个遗传研究小组采用基因组范围的易感基因的扫描工作 ,在人类和鼠模型中鉴定出多个遗传易感位点 ,这些位点可能含有自身免疫病的致病基因。本文就人类和鼠模型中定位的易感基因位点作一综述
About 5% of the population is affected by autoimmune diseases, which are characterized by the presence of large numbers of autoantibodies against autoantigen in the patient’s body, which auto-antibodies cause damage to the body through different modes. Some serious autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus can cause malaise and death. In conclusion, the incidence and disability rates of autoimmune diseases present a global health problem. Due to the immense magnitude and breadth of this health problem, a global craze for the etiology of autoimmune diseases has arisen. Epidemiological investigations of multi-generational families and large numbers of twins clearly show the presence of genetic factors for autoimmune disease. At least more than 20 disease susceptibility genes are thought to interact with environmental factors causing the occurrence and development of autoimmune diseases. Based on this hereditary wave of genetic research, several genetic research groups have used genome-wide scanning of susceptibility genes to identify multiple sites of genetic susceptibility in humans and murine models that may harbor pathogenic autoimmune diseases gene. This article reviews the location of susceptibility loci in human and murine models