Serý Omar, Drtílková Ivana, Theiner Pavel, Pitelová Renáta, Staif Radim, Znojil Vladimír, Lochman Jan, Didden William
Laboratory of neurobiology and molecular psychiatry, Department of Biochemistry, Masaryk University, Faculty of Science, Brno, Czech Republic.
Neuro Endocrinol Lett. 2006 Feb-Apr;27(1-2):236-40.
Attention deficit hyperactivity disorder (ADHD) is a prevalent childhood disorder. Evidence from the family and twin studies suggest that ADHD is familiar and highly heritable. Association studies are frequently used for the searching of markers responsible for genetic basis of ADHD. We investigated TaqI polymorphism of the dopamine receptor D2 (DRD2) in relationship with ADHD. The association between TaqI A polymorphism of DRD2 gene and ADHD has previously been published.
We used the association study to test the relationship between TaqI A polymorphism of DRD2 gene and ADHD on groups of ADHD boys and control boys.
For DNA isolation, buccal tissue was used. PCR with restriction analysis of PCR products was used for genotyping.
We found statistically different genotypic and allelic frequencies (p < 0.008, p < 0.002, respectively) of DRD2 polymorphism between two studied groups of boys.
According to our results we suppose that polymorphism TaqI A of DRD2 gene is involved in the pathogenesis of childhood ADHD in male subjects. Allele A1 and genotype A1A1 in male subjects is associated with ADHD.
Our study confirmed the relationship between TaqI A polymorphism of DRD2 gene and ADHD published previously.
注意缺陷多动障碍（ADHD）是一种常见的儿童疾病。家族研究和双胞胎研究的证据表明，ADHD具有家族聚集性且高度可遗传。关联研究经常被用于寻找导致ADHD遗传基础的标记物。我们研究了多巴胺受体D2（DRD2）的TaqI多态性与ADHD的关系。DRD2基因的TaqI A多态性与ADHD之间的关联此前已有报道。
我们采用关联研究来测试DRD2基因的TaqI A多态性与ADHD男孩组和对照男孩组之间的关系。
使用颊黏膜组织进行DNA提取。采用PCR及PCR产物的限制性分析进行基因分型。
我们发现两个研究的男孩组之间DRD2多态性的基因型和等位基因频率在统计学上存在差异（分别为p < 0.008，p < 0.002）。
根据我们的结果，我们推测DRD2基因的TaqI A多态性参与了男性儿童ADHD的发病机制。男性受试者中的等位基因A1和基因型A1A1与ADHD相关。
我们的研究证实了DRD2基因的TaqI A多态性与之前报道的ADHD之间的关系。
