系统性红斑狼疮病人MBL基因多态性位点和血清MBL浓度的关系

Relationship between MBL Gene Polymorphisms and Circulating MBL Concentration in SLE Patients

目的研究SLE病人M BL基因第54号密码子和启动子序列多态位点与血清M BL水平的关系。方法用多聚酶链反应-限制性片段长度多态性位点(PCR-RFLP)分析技术和PCR技术分别分析了92名正常人和104名SLE患者的M BL基因外显子1第54号密码子及启动子的多态性位点,同时用EL ISA法测定了血清M BL浓度。结果正常人和SLE病人M BL基因第54号密码子基因型分布频率GGC/GGC型和GGC/GAC型无显著性差异,但正常人组血清M BL浓度显著高于SLE病人组;两组人员M BL启动子多态性位点HY/HY型M BL血清浓度明显高于其它等位基因型,SLE病人各基因型血清浓度均低于正常组;HY/LX型(30.8%)显著高于正常人组(13.0%)(P<0.01)。结论SLE病人的血清M BL浓度明显降低与M BL基因启动子LX型增加有关,但与第54号密码子变异无相关性。

Objective To investigate the relationship between MBL gene polymorphisms and circulating MBL concentration. Methods PCR-RFLP technique and PCR technique were used to genotype for polymorphisms in the human MBL gene. Serum MBL concentrations were measured using an ELISA assay. Results The genotype frequencies of GGC/GGC and GGC/GAC were nonsignificantly different in SLE patients versus controls. Circulating levels of MBL were significantly higher in SLE patients than in controls. MBL concentrations were significantly higher among patients with HY/HY genotype than among patients with other genotypes in both two groups. MBL concentrations were significantly lower among SLE patients of all genotypes than among healthy subjects respectively, HY/LX genotype was significantly higher in patients with SLE（30. 8%）than in controls （13. 1%）. Conclution Low serum MBL levels have been shown to be associated with increased promoter LX allele ,but is negatively associated with genetic polymorphism in codon 54.