注意缺陷多动障碍与儿茶酚-O-甲基转移酶基因的关联分析

目的：分析COMT基因多态性与ADHD的关联;寻找ADHD的易感基因。方法：采用PCR-RFLP技术,检测54名ADHD患者及其父母（n=82）和正常对照者（n=30）COMT基因Val158Met多态性的基因型和等位基因频率,运用病例对照研究和核心家系的关联分析（HRR和TDT）方法分别进行分析。结果：Val158Met多态性的各基因型和等位基因频率在ADHD组与对照组以及核心家系中的分布差异均无显著性（均P〉0．05）。注意缺陷为主型患儿COMT基因的G／G型频率和G等位基因频率明显高于混合型的（P〈0．05）,A等位基因与ADHD的某些临床症状如注意问题、违纪行为、攻击行为等相关。结论：（1）COMT基因可能与ADHD缺乏关联。仅起微效基因的作用：（2）COMT可能与ADHD临床亚型或临床症状有关。

Association Analysis Between Catechol-o-methyltransferase (COMT) Gene and ADHD

Objective: To analyse the association between polymorphisms in human catechol-o-methyltransferase gene and ADHD,and to find the disease-perdisposing genes of ADHD.Methods: Genotypes and allele frequencies of Val158Met polymorphism at COMT gene in ADHD probands(n=54),their parents(n=82),and normal controls(n=30) were examined by PCR,RFLP techniques.Both case-control association study and family-based association study(HRR and TDT analysis) were used.Results: No differences in genotypes and allele frequencies of Val158Met polymorphism at COMT gene were observed between ADHD group and control group(P >0.05),and in nuclear families(P >0.05).The frequencies of genotype G/G and G allele of Val158Met polymorphism at COMT gene in ADHD predominantly inattention subtype were significantly higher than those in combined subtype(P<0.05)."A" allele was associated with certain clinical manifestations(attention problems,delinquent behavior and aggressive behavior).Conclusion: COMT gene was probably not associated with ADHD in this study.COMT gene was probably associated with clinical subtypes and clinical manifestations of ADHD.