5-羟色胺转运体基因与注意缺陷多动障碍及其相关症状的关联分析

目的　探讨5- 羟色胺转运体( 5 -HTT)基因启动子区多态性与注意缺陷多动障碍(ADHD)及其相关症状的关系。方法　抽取1 39例ADHD患儿及1 1 5名正常对照,用Achenbach儿童行为调查表(CBCL)来评定患者的临床症状;采用聚合酶链式反应(PCR)、聚丙烯酰胺凝胶电泳结合银染技术,检测ADHD患者和对照组基因型和等位基因的频率。结果　患者组5- HTT启动子区多态性( 5- HTTLPR)的基因型和等位基因的频率与对照组相比无显著性差异(P >0. 0 5) ;但发现S/S基因型个体社会退缩、躯体主诉两行为分量表评分高,S/S基因型个体与S/L +L/L基因型个体间社会退缩、躯体主诉两分量表分有显著性差异(P <0 . 0 5)。结论　本研究结果不支持5- HTTL- PR与ADHD存在关联,但ADHD的某些内化性症状与5 -HTTLPR可能存在关联。

Analysis on the relationship among serotonin transporter promoter gene polymorphism, ADHD and related symptoms

Objective To investigate the relationship between serotonin transporter promoter polymorphisms(5-HTTLPR) and Attention deficit hyperactivity disorder(ADHD) in a Chinese Han population. Methods One hundred and thirty-nine children with ADHD and 115 normal controls in Hunan area were involved. The clinical symptoms were assessed using Child Behaviour Checklist(CBCL) by parents. The genotype and alleles were examined with polymerase chain reaction(PCR), nondenaturing polyacrylamide gel electrophoresis and silver staining. Results There were no significant differences in the frequencies of the genotypes and alleles of 5-HTTLPR between ADHD and normal control. There were significant effects of 5-HTTLPR genotypes for Withdrawn or Somatic complaints subscales of CBCL and patients with homozygous for the short allele(s/s) showed more withdrawn and somatic complaints scores. Conclusions No corelation was found between ADHD and 5-HTTLPR in this Chinese sample, but the genotype effect of 5-HTT gene may associate with some internalizing symptoms of ADHD.