Jiang S, Xin R, Lin S, Qian Y, Tang G, Wang D, Wu X
Shanghai Mental Health Center, Shanghai, China.
Am J Med Genet. 2001 Dec 8;105(8):783-8. doi: 10.1002/ajmg.10098.
Attention-deficit hyperactivity disorder (ADHD) is a prevalent behavioral disorder in children and the etiology of this disorder is not clear. Molecular genetic and pharmacological studies suggest the involvement of dopaminergic and noradrenergic neurotransmitter systems in ADHD, e.g., several reports have found association between ADHD and the dopamine receptor gene DRD-4, the dopamine transporter gene DAT1, and the catecholamine clearance enzyme catechol-O-methyltransferase. Monoamine oxidase (MAO) A and B genes encode enzymes that participate in the metabolism of neurotransmitters of the dopaminergic and noradrenergic systems. MAO inhibitors have been shown to be effective in the treatment of ADHD. Our previous studies showed an association between ADHD and the DXS7 locus, which is located in close vicinity to the MAO genes on chromosome X. These findings suggest that there might be linkage between ADHD and MAO genes. To test this hypothesis, we used the transmission/disequilibrium test (TDT) to test for linkage between a VNTR polymorphism at the MAOA(CA)(n) or MAOB(GT)(n) locus and DSM-III-R-diagnosed ADHD in 82 nuclear families of the Chinese population. The TDT analysis revealed linkage between ADHD and the MAOA(CA)(n) locus (chi-square = 15.25, df = 7, P < 0.05), but not the MAOB(GT)(n) locus (chi-square = 11.18, df = 7, P > 0.05). The data showed that ADHD was in linkage with the MAOA gene and suggested that MAOA might be a susceptibility factor for ADHD.
注意缺陷多动障碍（ADHD）是一种常见的儿童行为障碍，其病因尚不清楚。分子遗传学和药理学研究表明，多巴胺能和去甲肾上腺素能神经递质系统与ADHD有关，例如，一些报告发现ADHD与多巴胺受体基因DRD - 4、多巴胺转运体基因DAT1以及儿茶酚胺清除酶儿茶酚 - O - 甲基转移酶之间存在关联。单胺氧化酶（MAO）A和B基因编码参与多巴胺能和去甲肾上腺素能系统神经递质代谢的酶。MAO抑制剂已被证明对ADHD的治疗有效。我们之前的研究表明，ADHD与DXS7位点有关联，该位点位于X染色体上与MAO基因紧邻的位置。这些发现表明ADHD与MAO基因之间可能存在连锁关系。为了验证这一假设，我们使用传递不平衡检验（TDT）来检测中国人群82个核心家庭中MAOA(CA)(n)或MAOB(GT)(n)位点的VNTR多态性与DSM - III - R诊断的ADHD之间的连锁关系。TDT分析显示ADHD与MAOA(CA)(n)位点存在连锁关系（卡方 = 15.25，自由度 = 7，P < 0.05），但与MAOB(GT)(n)位点不存在连锁关系（卡方 = 11.18，自由度 = 7，P > 0.05）。数据表明ADHD与MAOA基因存在连锁关系，提示MAOA可能是ADHD的一个易感因素。
