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目的 分析去甲肾上腺素的合成限速酶———多巴胺 β羟化酶基因 (DBH)在伴或不伴破坏性行为障碍 (DBD)的注意缺陷多动障碍 (ADHD)核心家系中的传递情况 ,探讨伴或不伴DBD的ADHD与DBH基因之间的关系。方法 以DSM IV诊断标准为依据 ,选择 2 92例ADHD核心家系作为研究对象 ,选取DBH 5′侧翼序列的 - 10 2 1C→T多态为遗传标记 ,通过PCR扩增 ,酶切和电泳确定DBH- 10 2 1C→T多态的基因型。采用传递不平衡检验 (TDT)分析DBH - 10 2 1C→T多态在伴或不伴DBD的ADHD核心家系中的传递情况。结果 DBH - 10 2 1C→T多态在伴或不伴DBD的ADHD中均存在传递不平衡 ,前者优先传递T等位基因 (P <0 0 5 ) ;后者优先传递C等位基因 (P <0 0 5 )。考虑到ADHD亚型的影响 ,DBH - 10 2 1C→T多态仅在ADHD C伴DBD组中存在传递不平衡 ,优先传递T等位基因 (P <0 0 5 )。结论 伴或不伴DBD的ADHD与DBH - 10 2 1C→T多态均存在关联 ,但优先传递的等位基因不同 ,前者优先传递的是低活性的T等位基因 ,而后者优先传递的是高活性的C等位基因 ,提示伴与不伴DBD的ADHD在遗传机制上存在差异。结合ADHD亚型分析 ,仅ADHD C伴DBD与DBH - 10 2 1C→T多态存在关联 ,提示在ADHD 3种亚型中二者的关系可能较为密切。
Objective To analyze the delivery of norepinephrine-synthesizing rate-limiting enzyme, dopamine β-hydroxylase gene (DBH), in nuclear pedigrees of attention deficit hyperactivity disorder (ADHD) with or without destructive behavior disorder (DBD) , To explore the relationship between ADHD and DBH genes with or without DBD. Methods Based on the diagnostic criteria of DSM IV, 9292 ADHD core families were selected as the research object. The -10 102C → T polymorphism of 5 ’flanking sequence of DBH was selected as the genetic marker. DBH was determined by PCR amplification, enzyme digestion and electrophoresis - 10 2 1C → T polymorphism genotypes. Transmission disequilibrium test (TDT) was used to analyze the transmission of DBH - 10 2 1C → T polymorphism in ADHD core pedigrees with or without DBD. Results There was imbalance in the distribution of DBH - 10 2 1C → T polymorphism in ADHD with or without DBD. The former gave priority to the transmission of the T allele (P <0.05), while the latter gave priority to transmission of the C allele (P <0 0 5). Considering the influence of ADHD subtypes, DBH - 10 2 1C → T polymorphism only had transmission imbalance in ADHD C with DBD group, preferentially transmitting T allele (P <0.05). Conclusion ADHD with or without DBD is associated with DBH - 10 2 1C → T polymorphism. However, the alleles that are preferentially transmitted are different. The former preferentially transmits the low activity T allele, while the latter preferentially delivers High activity of the C allele, suggesting that with and without DBD ADHD in the genetic mechanism of differences in the mechanism. According to the ADHD subtype analysis, only ADHD C patients with DBD and DBH - 10 2 1C → T polymorphism were correlated, suggesting that the relationship between the two subtypes of ADHD may be more closely.