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[全基因组搜索X染色体上与注意力缺陷多动障碍(ADHD)的连锁关系]

[Genome-wide search for linkage to attention deficit hyperactivity disorder (ADHD) on the X chromosome].

作者信息

Jiang San-Duo, He Mei, Qian Yi-Ping, Wang Dong-Xian, Zhang Ye, Li Fei, Tian Hong-Jun, Xin Ren-E, Tang Guo-Mei, Wu Xiao-Dong

机构信息

Shanghai Mental Health Center, Shanghai, China.

出版信息

Yi Chuan. 2006 Jan;28(1):26-30.

Abstract

Attention deficit hyperactivity disorder (ADHD) is the most common childhood-onset behavioral. Boys are more often affected than girls. Family, twin and adoption studies have supported a strong genetic basis. 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 catechol-o-methyltransferase. Our previous studies showed an association between ADHD and the DXS7 locus, which is located in closely linked to the MAO gene, and MAOA gene on chromosome X. To test this hypothesis, we used the genome scan for a predisposing locus on chromosome X to ADHD. We used the tramsmission/disequilibrium test (TDT) to test for linkage between a VNTR polymorphism at the 48 markers of chromosome X and DSM-III-R oliagnosed ADHD in 84 nuclear families of the Chinese population. The TDT analysis revealed linkage between ADHD and the DXS1214(TDT: Chi2=18.1, df=7, P<0.01), DXS8102(TDT: Chi2=7.9, df=3, P<0.05), DXS1068(TDT: Chi2=21.9, df=9, P<0.01), DXS8015(TDT: Chi2=14.6, df=7, P<0.05), DXS1059(TDT: Chi2=27.8, df=10, P<0.01) and DXS8088(TDT: Chi2=20.4, df=3, P<0.01).The data showed that susceptibility loci might reside in chromosome Xp11.4-Xp21 and Xq23 for ADHD.

摘要

注意力缺陷多动障碍(ADHD)是最常见的起病于儿童期的行为障碍。男孩比女孩更易受影响。家族、双生子和收养研究均支持其有强大的遗传基础。该障碍的病因尚不清楚。分子遗传学和药理学研究提示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 - O - 甲基转移酶之间存在关联。我们之前的研究表明ADHD与DXS7位点有关联,该位点与位于X染色体上的MAO基因和MAOA基因紧密连锁。为验证这一假设,我们对X染色体上与ADHD相关的易感位点进行了全基因组扫描。我们使用传递不平衡检验(TDT)来检测中国人群84个核心家庭中X染色体48个标记处的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DXS1214(TDT:卡方 = 18.1,自由度 = 7,P < 0.01)、DXS8102(TDT:卡方 = 7.9,自由度 = 3,P < 0.05)、DXS1068(TDT:卡方 = 21.9,自由度 = 9,P < 0.01)、DXS8015(TDT:卡方 = 14.6,自由度 = 7,P < 0.05)、DXS1059(TDT:卡方 = 27.8,自由度 = 10,P < 0.01)和DXS8088(TDT:卡方 = 20.4,自由度 = 3,P < 0.01)之间存在连锁关系。数据表明ADHD的易感位点可能位于Xp11.4 - Xp21和Xq23染色体区域。

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