中文摘要：

目的探讨注意缺陷多动障碍（attention-deficit hyperactivity disorder,ADHD）执行功能与儿茶酚胺氧位甲基转移酶（catechol-O-methyltransferase,COMT）基因rs4680多态性位点的关系。方法采用威斯康星分类测验（Wisconsin card sorting test,WCST）对114例符合美国精神障碍诊断与统计手册第四版（mental disorders versionⅣ,DSM-Ⅳ）诊断标准的ADHD儿童与76名正常对照组进行执行功能评估,并应用限制性片段长度多态性的方法进行COMT基因rs4680多态性位点分析。结果 ADHD组的WCST总应答数、完成第一个分类所需应答数和持续性应答数均明显高于正常对照组（P〈0.05）,而完成分类数明显低于正常对照组（P〈0.01）。ADHD患者中不同基因型组之间WCST概念化水平百分数差异具有统计学意义（P=0.01）,A/A组高于G/A组和G/G组（P〈0.05）,G/A组也高于G/G组但无统计学意义（P〉0.05）。不同基因型组间WSCT其他指标的差异均无统计学意义（P≥0.05）。ADHD组和正常对照组之间COMT基因rs4680多态性基因型及等位基因的分布差异均无统计学意义（P〉0.05）。结论本研究未发现COMT基因rs4680多态性与ADHD存在关联,但rs4680多态性可能与ADHD的某些执行功能指标有关。

英文摘要：

Objective To study the relationship between rs4680 polymorphism of catechol-O-methyltransferase（COMT） gene and the executive function of attention-deficit hyperactivity disorder （ADHD）.Methods ADHD was diagnosed in 114 patients according to the diagnostic and statistical manual of mental disorders version Ⅳ （DSM-Ⅳ）.Seventy-six normal volunteers were chosen as controls.Wisconsin card sorting test （WCST） was employed to evaluate the executive function.Polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP） techniques were performed to detect COMT rs4680 polymorphism.Results Compared with control group,the total response number,response number on first category,continuity response number of WCST in ADHD patients were higher（P0.05）and the category control number of WCST in ADHD patients was lower（P0.01）.There were significant differences in percentage of conceptual level between different genotype group of ADHD patients（P=0.01）.The percentage of conceptual level was higher in A/A group than in G/G or in G/A group（P0.05）.Although the percentage of conceptual level in G/A group was higher than that in G/G group,the difference was not significant（P0.05）.There were no differences in other items of WCST between different genotype group of ADHD patients（P≥0.05）.There was no difference on the COMT genotype or the allele frequencies between the ADHD group and the normal control group （P0.05）.Conclusions Our data do not suggest an association between the rs4680 polymorphism of COMT gene and ADHD.However,there may be an association between rs4680 polymorphism and some executive function.