一个多重自身免疫性疾病家系的临床及遗传学分析  

The clinical and genetic characteristics of multiple autoimmune diseases pedigree

作　　者：郑瑞芝[1] 张素华[1] 李蓉[1] 龚莉林[1] 汪志红[1] 汪茂荣[1] 万小莉[1] 

机构地区：[1]重庆医科大学附属第一医院内分泌科,重庆400016

出　　处：《中国免疫学杂志》2008年第4期360-364,共5页Chinese Journal of Immunology

基　　金：重庆市卫生局科学基金项目(04-2-111)资助

摘　　要：目的:分析多重自身免疫性疾病家系的临床特征和遗传基因背景。方法:收集一个多重自身免疫性疾病家系资料与亲属外周血标本,用PCR-RFLP技术,结合DNA序列分析方法进行FcRL3基因突变分析。结果:结合临床表现、生化资料与家系分析,先证者Graves′病(GD)和系统性红斑狼疮(SLE)诊断明确。基因结构分析发现3例Graves′病患者均存在由FcRL3基因启动子、外显子2和外显子4构建的GGC单体型,4名甲状腺球蛋白抗体(TgAb)和甲状腺过氧化物酶抗体(TPOAb)均阳性家系成员中,均存在启动子-169G等位基因。结论:FcRL3基因GGC单体型可能是GD的易感基因,其启动子-169G等位基因型可能与自身抗体(TgAb和TPOAb)的产生有关联。Objective：To analyze the clinical characteristics of multiple autoimmune diseases pedigree and the background of the associated genes.Methods：The clinical data of the multiple autoimmune diseases pedigree were collected.Genomic DNA was extracted from the peripheral venous blood of patients and other family members,polymerase chain reaction restriction fragment length polymorphism（PCR-RFLP） analysis and DNA sequencing were used to detect mutation of FcRL3 gene.Results：The proband diagnosis of Graves＇ disease（GD） and systemic lupus erythematosus（SLE） was determined by clinical characteristics and biochemistry data.All of the three GD patients presented FcRL3 gene GGC haplotype（promoter-Exon2-exon4）,and all of the four relative members whose TgAb and TPOAb were positive existed FcRL3 promoter-169G allele.Conclusion：FcRL3 gene GGC haplotype may be a predisposing gene to GD,FcRL3 promoter-169G allele may have a correlation with autoantibody（TgAb and TPOAb）production.

关 键 词：Graves′病 FcRL3 遗传学 

分 类 号：R392.6[医药卫生—免疫学]