【摘要】 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:①COMT基因可能与ADHD缺乏关联,仅起微效基因的作用;②COMT可能与ADHD临床亚型或临床症状有关。更多还原

【Abstract】 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.更多还原