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目的分析湖北省汉族成人T细胞免疫球蛋白域黏蛋白域蛋白-3(Tim-3)启动子区-1541C>T和-574G>T单核苷酸多态性(SNP),探讨其与类风湿关节炎(RA)易感性之间的关系。方法分别采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和等位基因特异性聚合酶链反应(AS-PCR)检测湖北省115例RA患者和100名健康者Tim-3启动子区-1541C>T和-574G>T的SNP,计算基因型和等位基因频率。结果①湖北省健康人群Tim-3启动子区-1541位C/C、C/T和T/T基因型频率分别是0.960、0.040和0,而RA患者其频率分别为0.948、0.052、0,其基因型和等位基因频率均与对照组差异无统计学意义(P>0.05);②湖北省健康人群Tim-3启动子区-574位G/G、G/T和T/T基因型频率分别是0.990、0.010和0,而RA患者频率分别为0.974、0.026、0,其基因型和等位基因频率均与对照组比较差异无统计学意义(P>0.05)。结论湖北汉族人群Tim-3启动子区-1541和-574位存在单核苷酸多态性变异,但这两位点的变异与该地区汉族成人RA易感性无关。
Objective To analyze the nucleotide polymorphisms (SNPs) -1541C> T and -574G> T of T-cell immunoglobulin domain mucin domain protein-3 (Tim-3) promoter in Hubei Han population, Rheumatoid arthritis (RA) the relationship between susceptibility. Methods PCR-RFLP and allele-specific polymerase chain reaction (AS-PCR) were used to detect the expression of Tim-3 in 115 RA patients and 100 healthy controls in Hubei province Promoter region -1541C> T and -574G> T SNP, calculate genotype and allele frequency. Results ① The frequencies of -1541 C / C, C / T and T / T genotypes in Tim-3 promoter region of healthy population in Hubei province were 0.960, 0.040 and 0 respectively, while those in RA patients were 0.948, 0.052, (P> 0.05). ②The G / G, G / T and T / T genotypes of -574 in Tim-3 promoter region of healthy population in Hubei province were significantly higher than those in control group The frequencies were 0.990,0.010 and 0, respectively. However, the frequency of RA patients was 0.974,0.026,0 respectively. There was no significant difference in genotype and allele frequencies between the two groups (P> 0.05). Conclusion SNPs at -1541 and -574 in Tim-3 promoter region of Hubei Han population have single nucleotide polymorphisms (SNPs), but the mutation at these two loci has nothing to do with susceptibility to RA in adults of Han nationality in Hubei province.