5-HT2A受体基因102 T/C多态性与慢性抽动障碍的遗传关联

目的 探讨慢性抽动障碍与5-HT2A受体基因中102 T/C多态性的关系。方法 采用聚合酶链式反应(PCR)与限制性片段长度多态性(RFLPs)方法,对慢性抽动障碍儿童(n=72)与其亲生父母(n=131)的5-HT2A受体102 T/C的多态性分型,数据采用单体型相对风险(GHRR和HHRR)与传递不平衡检验(TDT)方法进行分析。 结果 合并焦虑情绪的慢性抽动障碍与5-HT2A受体102 T/C位点T等位基因存在关联或连锁不平衡(TDT 检验X2=5.45,P<0.05),而总的样本及其他分组与该位点无显著关联。 结论 5-HT2A受体102 T/C位点T等位基因与合并焦虑情绪的慢性抽动障碍相关联。

Association analysis between chronic tic disorder and the 102 T/C polymorphism of the 5-HT2A receptor gene

Objectives: To detect the genetic association between chronic tic disorder (CTD) and the 102 T/C polymorphism in the 5-HT2A receptor gene. Method: The genetype was detected with Polymorphism Chain Reaction (PCR) and Restriction Fragment Length Polymorphisms (RFLPs) technique. The data were analyzed with hyplotype relative risk (GHRR and HHRR) and transmission disequilibrium test (TDT) methods. Results: There is significant association between the 102 T/C polymorphism in the 5-HT2A receptor gene and CTD comorbided with anxiety (TDT analysis, X2=5. 45, P<0. 05). There is no evidence of association or transmission disequilibrium between total CTD sample or other groups. Conclusion: 102 T/C polymorphism in the 5-HT2A receptor gene is exclusively associated with CTD comobided anxiety in Han population.