幼年特发性关节炎患儿甘露糖结合凝集素基因启动子区SNP研究

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。

Study of single nucleotide polymorphisms in the promoter of mannose-binding lectin gene in patients with juvenile idiopathic arthritis

Objective: To investigate the association of 2 single nucleotide polymorphisms (SNP) at positions -550 and -221 in the promoter of the mannose-binding lectin(MBL)gene with susceptibility to juvenile idiopathic arthritis (JIA). Methods: Sequence specific priming-polymerase chain reaction(SSP-PCR)were used to investigate the SNPs of the promoter region of the MBL gene in 50 patients with JIA and 48 healthy children. Results: Three haplotype, HY, LY, and LX, were present in both groups, and no HX haplotype was found. And no statistically significant differences were observed when the haplotype distributions between JIA patients and healthy controls were compared. Conclusion: Our results provide no evidence for genetic association conferred by the SNPs in the promoter of the MBL gene with respect to susceptibility of JIA.