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目的了解宁夏类风湿性关节炎(RA)患者与健康对照组间甘露糖结合凝集素(MBL)基因多态性的分布差异,探讨MBL基因多态性与RA的关系。方法采用聚合酶链式反应-限制性片段长度多态性分型法(PCR-RFLP),分析378名宁夏健康个体及280名RA患者MBL外显子Ⅰ的MBL52位(C/T)、MBL54位(G/A)和MBL57位(G/A)密码子突变的等位基因频率和基因型频率。结果在宁夏健康人群和RA患者中,未见MBL-57位多态变异;MBL54位点基因型频率的分布在患者总体与对照组的比较中,差异有统计学意义(P﹤0.05);MBL52位点在RA患者与健康对照组的比较中,其基因型频率和等位基因频率的分布差异均有统计学意义(P﹤0.05)。结论 MBL54G/A多态性与RA不相关,MBL52C/T位的等位基因T可能对RA的发生起一定的保护作用。
Objective To investigate the distribution of mannose binding lectin (MBL) gene polymorphism in patients with rheumatoid arthritis (RA) and healthy controls in Ningxia and explore the relationship between MBL gene polymorphism and RA. Methods PCR-RFLP was used to analyze the polymorphisms of MBL52 (C / T) and MBL54 in 378 Ningxia healthy subjects and 280 RA patients with MBL exonⅠ (G / A) and MBL57 (G / A) codon mutations in the allele frequency and genotype frequency. Results The polymorphism of MBL-57 polymorphism was not observed in Ningxia healthy people and RA patients. The distribution of MBL54 genotype frequency was statistically significant (P <0.05) in comparison with the control group. MBL52 There were significant differences in the distribution of genotype frequency and allele frequency among RA patients and healthy controls (P <0.05). Conclusion MBL54G / A polymorphism is not associated with RA, allele T of MBL52C / T may play a protective role in the pathogenesis of RA.