甘露糖结合凝集素基因多态性与幼年特发性关节炎的相关性

Association of Mannose-Binding Lectin Gene Polymorphism and Juvenile Idiopathic Arthritis

目的探讨甘露糖结合凝集素(MBL)基因外显子1多态性与幼年特发性关节炎(JIA)易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法分析93例JIA和48名正常健康儿童MBL基因外显子1第54和57位密码子的多态性。结果1.JIA及健康儿童均未发现有57位密码子突变。2.JIA患儿第54位密码子野生型基因型频率为71.0%(66/93),杂合子型为25.8%(24/93),突变纯合子型为3.2%(3/93);正常对照儿童野生型75.0%(36/48),杂合子型为25.0%(12/48),未发现突变纯合子基因型;各基因型与JIA组比较无差异(P>0.05)。结论MBL基因外显子1多态性与JIA无相关。

Objective To investigate the relationship between mannose- binding lectin（MBL） gene polymorphism and susceptibility of juvenile idiopathic arthritis（JIA）. Methods Polymerase chain reaction and restrictive fragment length polymorphism（ PCR - RFLP） were used to investigate polymorphisms of codon 54 and codon 57 of MBL gene in 93 patients with JIA and 48 healthy children. Results There was no show codon 57 polymorphism in both groups. Genotypic frequencies of the codon 54 did not show significant difference between JIA patients and controls（wild type 71.0% vs 75.0%, heterozygous type 25.8% vs 25.0%, homozygous type 3.2% vs 0）. There was no significant difference between JJA patients and control group（P 〉0.05）. Conclusion The mutation of the MBL gene may be not associated with JIA.