注意缺陷多动障碍与儿茶酚-O-甲基转移酶基因Val158Met多态性的关联分析  

Association analysis between attention-deficit hyperactivity disorder and Val158Met polymorphism of catechol-O-methyltransferase gene

作　　者：张咸宁[1] 阮列敏[2] 乐燕萍[1] 张野[3] 

机构地区：[1]浙江省宁波大学医学院遗传学室,315211 [2]宁波市第一医院 [3]上海市精神卫生中心

出　　处：《中华医学遗传学杂志》2003年第4期322-324,共3页Chinese Journal of Medical Genetics

基　　金：宁波市医药卫生科研项目 (2 0 0 1 4 4 );宁波市农业与社会发展计划项目 (0 1 N0 1 0 8- 2 );宁波大学科研重点项目 (2 0 1 1 4 0 0 2 )~~

摘　　要：目的　探讨注意缺陷多动障碍 (attention- deficit hyperactivity disorder,ADHD)汉族患儿与儿茶酚 - O-甲基转移酶 (catechol- O- methyltransferase,COMT)基因第 15 8位密码子 G→ A点突变所引起的缬氨酸→甲硫氨酸 (Val15 8Met)的错义突变多态性的关系。方法　采用聚合酶链反应 -限制性片段长度多态性技术 ,分析了 117例符合 DSM- 诊断标准的上海汉族 ADHD患儿与 10 5例正常健康对照组的COMT基因的 Val15 8Met多态性位点频率。结果　 ADHD组的 A等位基因频率为 2 5 .2 1% ,而对照组为2 3.81% ,两组差异无显著性 (χ2 =0 .5 197,P>0 .0 5 )。 COMT各基因型的分布频率在 ADHD和对照组之间的差异也无显著性 (P>0 .0 5 )。结论　汉族儿童注意缺陷多动障碍 COMT基因 Val15 8Met多态性可能与 ADHD无关联。Objective: To investigate the association between attention-deficit hyperactivity disorder (ADHD) in Han Chinese children and Val158 Met polymorphism of catechol-O-methyltransferase (COMT) gene caused by the missense mutation of G158A in exon 4. Methods: By using polymerase chain reaction-restriction fragment length polymorphisms the Val158 Met polymorphism of COMT gene was tested in 117 children with the diagnosis of ADHD as defined by DSM-IV and in 105 healthy controls living in Shanghai. Results: The frequencies of A allele were 25.21% and 23.81% in the ADHD group and the health controls respectively, which showed no significant difference between the two groups (ψ2 = 0. 5197, P> 0. 05). There was also no significant difference in the distribution of all genotypes of COMT gene between the ADHD patients and the controls (P>0. 05). Conclusion: It was suggested that for the Han Chinese children with ADHD in this study, there was no association between ADHD and Val158Met polymorphism of COMT gene.

关 键 词：注意缺陷多动障碍 儿茶酚-O-甲基转移酶基因 遗传多态性 错义突变多态性 病因 发病机理 诊断 

分 类 号：R749.94[医药卫生—神经病学与精神病学]