5'-untranslated region of the dopamine D4 receptor gene and attention-deficit hyperactivity disorder.
5'-untranslated region of the dopamine D4 receptor gene and attention-deficit hyperactivity disorder.
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DOI：
10.1002/1096-8628(20010108)105:1
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发表时间：
2001-01
期刊：
影响因子：
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通讯作者：
C. Barr;Y. Feng;K. Wigg;R. Schachar;R. Tannock;W. Roberts;M. Malone;J. Kennedy
中科院分区：
文献类型：
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作者：
C. Barr;Y. Feng;K. Wigg;R. Schachar;R. Tannock;W. Roberts;M. Malone;J. Kennedy
近年来，注意力缺陷多动障碍（ADHD）的分子遗传学基础一直是许多研究的焦点，其中大多数研究多巴胺系统基因的作用。大量的注意力集中在多巴胺D4受体基因（DRD4）的可能参与后，ADHD与等位基因的第三外显子中含有7个拷贝的48 bp重复的报告。在本文中，我们通过测试多巴胺受体D4基因转录起始位点5'区的三个多态性与ADHD的联系，扩展了对所观察到的关联的分子解释的搜索。我们特异性地靶向转录起始位点的5'区域中的多态性，因为该区域中的DNA变体可以改变基因的转录水平，从而改变表型。使用传递不平衡检验，我们没有观察到这三种多态性的任何等位基因向ADHD先证者的偏倚传递的显著证据。我们的结论是，这三个多态性是不相关的ADHD表型。
Recently the molecular genetic basis of attention-deficit hyperactivity disorder (ADHD) has been the focus of a number of studies with the majority of these investigating the role of dopamine system genes. A great deal of attention has been focused on the possible involvement of the dopamine D4 receptor gene (DRD4) following a report of an association of ADHD with the allele containing seven copies of the 48-bp repeat in the third exon. In this paper we extended the search for the molecular explanation for the observed association by testing three polymorphisms in the region 5' to the dopamine receptor D4 gene transcription start site for linkage to ADHD. We specifically targeted polymorphisms in the region 5' to the start site of transcription as DNA variants in this region could alter the transcription level of the gene and hence the phenotype. We did not observe significant evidence for biased transmission of any of the alleles at these three polymorphisms to ADHD probands using the transmission disequilibrium test. We conclude that these three polymorphisms are not related to the ADHD phenotype.