Barr C L, Wigg K G, Wu J, Zai C, Bloom S, Tannock R, Roberts W, Malone M, Schachar R, Kennedy J L
Department of Psychiatry, The Toronto Hospital, Western Division, Toronto, Ontario, Canada.
Am J Med Genet. 2000 Feb 7;96(1):114-7.
Data from animal studies suggest that the dopamine D3 receptor gene may have a role in locomotion and behavioral regulation. Therefore, this gene has been suggested as a candidate for attention-deficit hyperactivity disorder (ADHD). The dopamine D3 receptor gene (DRD3) has two common polymorphisms, one in exon I that changes a Serine to Glycine (Ser9Gly) and alters the recognition site for the restriction enzyme MscI [Lannfelt et al., 1992]. The other common polymorphism is located in intron 5 and results in the change of a restriction site for MspI [Griffon et al., 1996]. We investigated the possibility of linkage of the dopamine D3 receptor gene in 100 small, nuclear families consisting of a proband with ADHD, their parents, and affected siblings. We examined the transmission of the alleles of each of these polymorphisms and the haplotypes of both polymorphisms using the transmission disequilibrium test [Spielman et al., 1993]. We did not observe biased transmission of the alleles at either polymorphism or any haplotype. Our findings using this particular sample do not support the role of the dopamine D3 gene in ADHD. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:114-117, 2000.
动物研究数据表明，多巴胺D3受体基因可能在运动和行为调节中发挥作用。因此，该基因被认为是注意力缺陷多动障碍（ADHD）的一个候选基因。多巴胺D3受体基因（DRD3）有两种常见的多态性，一种在外显子I中，将丝氨酸变为甘氨酸（Ser9Gly），并改变了限制性内切酶MscI的识别位点[Lannfelt等人，1992年]。另一种常见的多态性位于内含子5中，导致MspI限制性位点的改变[Griffon等人，1996年]。我们在100个小型核心家庭中研究了多巴胺D3受体基因的连锁可能性，这些家庭由一名患有ADHD的先证者、他们的父母和受影响的兄弟姐妹组成。我们使用传递不平衡检验[Spielman等人，1993年]检查了每种多态性的等位基因传递以及两种多态性的单倍型传递。我们没有观察到任何一种多态性或任何单倍型的等位基因传递存在偏差。我们使用这个特定样本的研究结果不支持多巴胺D3基因在ADHD中的作用。《美国医学遗传学杂志》（神经精神遗传学）96:114 - 117，2000年。
