5-HT2A、5-HT6和APOE基因多态性与儿童孤独症的关联研究  

Family-based association study of 5-HT2A and 5-HT6 and APOE gene in Chinese autistic children

作　　者：卢建平[1] 苏林雁[2] 舒明跃[1] 杨志伟[1] 吴怀安[1] 邓小敏[1] 雷映[1] 

机构地区：[1]深圳市康宁医院,深圳518020 [2]中南大学湘雅二院精神卫生研究所

出　　处：《中国行为医学科学》2008年第7期613-616,共4页Chinese Journal of Behavioral Medical Science

基　　金：深圳市科技计划项目（JH200505180192A）

摘　　要：目的探讨儿童孤独症与5-羟色胺2A受体（5-HT2A）及5-羟色胺6受体（5-HT6）和载脂蛋白E（APOE）基因多态性之间的关系。方法应用聚合酶链反应和限制性片段长度多态性技术检测符合ICD-10诊断标准的孤独症患儿（患者组）和他们的父母（对照组）的5-HT2A及5-HT6和APOE基因多态性，采用传递不平衡检验（TDT）方法进行儿童孤独症核心家系5-HT2A及5-HT6和APOE基因与孤独症的关联分析。结果（1）孤独症组和父母对照组5-HT2A基因型频率和等位基因频率分布2组间的均差异无显著性（X^2=0．849，P=0．654；X^2=0．234，P=0．629）；APOE基因型频率和等位基因频率分布2组间的均差异无显著性（X^2=5．524，P=0．238；X^2=0．312，P=0．856）；5-HT6基因型频率和等位基因频率分布2组间的均差异无显著性（X^2=1．423，P=0．491；X^2=1．169，P=0．280）。（2）传递不平衡检验（TDT）发现5-HT6发生传递不平衡，孤独症与5-HT6基因相连锁（P=0．04）。结论5-HT6基因与儿童孤独症存在关联，其周围可能存在孤独症的致病基因。Objective To investigate the association between 5-HT2A,5-HT6, APOE gene and Chinese autistic children, Methods The ploymorphisms of 5-HT2A ,5-HT6 ,APOE gene were detected with PCR-RFLP in parent/offspring trios where the proband met the ICD-10 autism criteria. Transmission/disequilibrium test （TDT） analysis was used in all nucleus families. Results （1） The differences of 5-HT2A ,5-HT6, APOE genotypic distribution between two groups were not statistical significant （ P 〉 0.05）. （2） With transmission/disequilibrium test （TDT） analysis,there was a linkage association between autism and 5-HT6 gene polymorphism（ P = 0.04）. Conclusion It showed a possibility of linkage association between autism and 5-HT6 gene, and 5-HT6 may be a predisposing gene of Chinese autistic children.

关 键 词：儿童孤独症 5-HT2A 5-HT6 APOE 基因多态性 传递不平衡 关联分析 

分 类 号：R749.94[医药卫生—神经病学与精神病学]