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目的:研究中国北方人群白细胞介素10受体A(IL-10RA)基因多态性分布情况,探讨IL-10RA基因变异与系统性红斑狼疮发病的相关性。方法:利用基因测序、PCR扩增及单链构象多态性(Single-strand Conformation Polymorphism,SSCP)电泳技术,对IL-10RA基因多态性进行筛选及分析,比较系统性红斑狼疮病例组与健康对照组中基因型的分布频率。结果:在IL-10RA第5内含子处存在3种有意义单核苷酸多态性(SNP),即T/T型、C/C型、C/T型。其中T/T型和C/T型在病例组中的出现频率明显增加。结论:IL-10RA内含子5具有多态性并与系统性红斑狼疮的发病相关。
Objective: To study the distribution of interleukin 10 receptor A (IL-10RA) gene polymorphism in northern Chinese population and to explore the correlation between IL-10RA gene mutation and the pathogenesis of systemic lupus erythematosus. Methods: IL-10RA gene polymorphism was screened and analyzed by using gene sequencing, PCR amplification and single-strand conformation polymorphism (SSCP) electrophoresis, and to compare the patients with systemic lupus erythematosus The frequency of genotype distribution in the control group. RESULTS: There were three SNPs in IL-10RA intron 5, ie T / T, C / C and C / T. Including T / T type and C / T type in the case group frequency of appearance increased significantly. Conclusion: IL-10RA intron 5 is polymorphic and is associated with the pathogenesis of systemic lupus erythematosus.