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细胞毒性T淋巴细胞相关抗原4基因多态性与自身免疫性甲状腺病的相关性
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Journal Article
细胞毒性T淋巴细胞相关抗原4基因多态性与自身免疫性甲状腺病的相关性
2003
Overview
目的 探讨细胞毒性T淋巴细胞相关抗原4(CTLA-4)基因外显子1的49位点和启动子的318位点多态性与中国人自身免疫性甲状腺病(AITD)的相关性。方法 共收集50例GD，46例HT患者和50例正常对照静脉血标本提取基因组DNA。采用多聚酶链反应—限制性片段长度多态性分析(PCR-RFLP）方法，分别用Bbv I和Mse I检测外显子1和启动子的多态性。计算CTLA-4的基因型和等位基因频率。结果 ①与正常人相比，外显子1GG纯合子基因型发生频率在AITD组显著高于正常对照组；而AA纯合子基因型和AG杂合子基因型发生频率均显著低于正常对照组；G等位基因频率显著高于对照(P＜0．01)。②GD患者启动子的CC纯合子基因型发生频率明显高于正常对照；HT杂合子基因型发生频率明显低于正常对照；C等位基因频率显著高于正常对照(P＜0．01，OR＝2．61)；HT患者虽然有较多的CC基因型及较少的HT基因型，但与正常对照无显著性差异。⑦GD患者启动子为CC纯合子，外显子1为GG基因型显著高于对照(P＜0．01，OR＝2．38)，计算连锁不平衡系数揭示启动子的C等位基因和外显子1的G等位基因有连锁不平衡。结论 CTLA-4基因外显子1G49等位基因与AITD显著相关；CTLA-4基因启动子的多态性(C—T)与GD的相关性是由于其与外显子1连锁不平衡，因此它是GD的一个遗传危险标志，但不具有独立易感作用。
Publisher
西安交通大学第一医院内分泌科,陕西西安,710061
Subject
