孤独症核心家系5-HT和APOE基因的关联研究  

Association study of 5-HT gene and APOE gene in Chinese autistic children

作　　者：杜亚松[1] 江三多[1] 汪栋祥[1] 刘漪[1] 钱伊萍[1] 罗星光[2] 施慎逊[2] 王立伟[2] 顾牛范[2] 

机构地区：[1]上海市精神卫生研究所,200030 [2]复旦大学华山医学院

出　　处：《上海精神医学》2001年第3期130-133,共4页Shanghai Archives of Psychiatry

基　　金：上海市卫生局科技发展基金(98411)

摘　　要：目的 探讨孤独症与5-HT基因和APOE基因之间的关系。方法 应用PCR-RFLP技术对符合国际疾病分类第10版(ICD-10)中孤独症诊断标准的21例孤独症患儿和他们的父母进行了5-HT2a,5-HT6和APOE多态性的检测。结果 孤独症患儿与对照组5-HT2a,5-HT6和APOE的基因频率和基因型频率的分布呈基本一致的趋势,两组间未显示具有统计学意义的差别。采用基于单体型的单体型相对风险率分析方法,发现仅5-HT6基因中T等位基因与孤独症显著关联(RR=3.59,P<0.05)。传递不平衡检验(TDT)发现孤独症可能与5-HT6中T等位基因相连锁(McNemarX^2=5.4,P<0.05)。结论 5-HT6基因与孤独症的发病可能存在关联或连锁关系。Objectives: To explore the relation between autism and 5-HT gene and APOE gene. Method: The polymorphisms of 5-HT gene and apolipoprotein E gene in blood cell were examined with PCR-RFLP in 21 children who met ICD-10 autism criteria and their parents. Results: There were no differences of gene expression of 5-HT2a, 5-HT6 and APOE between autistic children and their parents. There were a significant association between autism and allele T of 5-HT6 (RR = 3. 59, P<0. 05). With transmission/disequilibrium test(TDT) analysis, we found that there was a linkage association between autism and allele T of 5-HT6 (x2 = 5. 4, P<0. 05). Conclusion: It is possible that there were a association between allele T of 5-HT6 gene and autism.

关 键 词：孤独症 5-HT基因 APOE基因 传递不平衡检测 婴幼儿 

分 类 号：R749.94[医药卫生—神经病学与精神病学]