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目的探讨甘露糖结合凝集素(MBL)基因启动子区单核苷酸多态性(SNP)与幼年特发性关节炎(JIA)易感性的关系。方法对50例JIA患儿和48名正常健康儿童MBL基因启动子区SNP位点-550(G/C,称H/L等位基因)和-221(G/C,称X/Y等位基因)采用等位基因特异性PCR法(PCR-SSP)检测,并分析其单元型及基因型频率。结果共检出HY、LY和LX三种单元型,在JIA患儿中的频率依次为0.540、0.270和0.190,而在正常儿童中频率分别为0.594、0.292和0.114;两组间各单元型比较均无显著性差异。结论MBL基因启动子区单核苷酸多态性与JIA无相关性。
Objective To investigate the relationship between single nucleotide polymorphism (SNP) of mannose-binding lectin (MBL) gene promoter and susceptibility to juvenile idiopathic arthritis (JIA). Methods 50 cases of JIA children and 48 healthy children MBL gene promoter region SNP locus -550 (G / C, said H / L allele) and -221 (G / C, said X / Y allele Gene) was detected by allele-specific PCR (PCR-SSP), and analyzed its haplotype and genotype frequencies. Results Three haplotypes HY, LY and LX were detected. The frequencies of HIA, LY and LX were 0.540,0.270 and 0.190 in children, respectively, while the frequencies in normal children were 0.594,0.292 and 0.114 respectively. The haplotypes of two groups were compared No significant difference. Conclusion There is no correlation between single nucleotide polymorphisms in promoter region of MBL gene and JIA.