天津地区汉族人Graves病与CTLA-4基因多态性的关联  

Association between Graves'disease and polymorphism of CTLA-4 gene in patients of the Han nationality in Tianjin area

作　　者：张鹏[1] 李梅[1] 赵勇[1] 袁梦华[1] 邱明才[1] 

机构地区：[1]天津医科大学总医院内分泌科,300052

出　　处：《中华内分泌代谢杂志》2007年第3期249-250,共2页Chinese Journal of Endocrinology and Metabolism

基　　金：天津市教委科技发展基金(020201)

摘　　要：以PCR-SSCP技术分析139例Graves病(GD)患者和110名正常对照者的CTLA-4基因第3外显子3′非翻译区(AT)重复序列基因型,发现GD组106 bp等位基因的频率明显高于正常对照组(RR =1.992,P<0.01);GD组中家族史阳性者106 bp等位基因频率高于家族史阴性者(RR=2.480,P<0.05)。提示CTLA-4基因第3外显子3′非翻译区(AT)重复序列106bp的等位基因可能是天津地区汉族人GD的易感基因。The polymorphism of （AT） repeat within the 3＇ untranslated region in exon 3 of CTLA4 gene was evaluated by PCR-SSCP in 139 patients with Graves＇ disease （GD） and 110 normal subjects in Tianjin. The gene frequency of 106 bp in patients with GD was significantly increased than that in the control group （RR = 1. 992, P 〈0.01 ） while the gene frequency of 106 bp in patients with positive family history was much higher than that in patients without positive family history （RR =2. 480, P 〈0.05 ）. The data suggest that an allele of 106 bp within 3＇ untranslated region in exon 3 of CTLA4 appears to be associated with genetic susceptibility to Graves＇ disease in Tianjin Han nationality

关 键 词：CTLA-4基因 格雷夫斯病 格雷夫斯眼病 多态现象 遗传 

分 类 号：R581.1[医药卫生—内分泌]