中文摘要：

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）的关系。方法抽取139例ADHD患儿（病例组）、62个ADHD核心家系（家系组，共186人）及115例正常对照（对照组）进行ADHD与5-HTT启动子区多态性（5-HITLPR）的关联分析。结果中国汉族人群中5-HTTLPR除了表现为S等位基因（484bp）、L等位基因（528bp）外，还发现比L等位基因长约88bp的超长片段（简称xL）。患者组5-HTTLPR的S／S、S／L、L／L基因型的频率（分别为52．5％，41．7％，5．8％）和S、L等位基因的频率（分别为73．4％，26．6％）与对照组（S／S、S／L、L／L基因型分别为58．3％，32．2％，9．5％；S、L等位基因分别为74．3％，25．7％）相比差异无显著性（P〉0．05）；对62个核心家系的基于单体型的单体型相对风险度分析（HHRR）和传递不平衡检验（TDT），未发现等位基因与ADHD存在关联和传递不平衡。结论本研究结果不支持5-HTTLPR与ADHD存在关联。

英文摘要：

objective To investigate the relationship between serotonin transporter promoter polymorphism （5-HTTLPR） and attention deficit hyperactivity disorder （ADHD）. Methods A case-control association study and a family-based association study with haplotype-based- haplotype relative risk （HHRR） and transmission/disequilibrium test （TDT） were used to analyze the association of 5-HTTLPR with ADHD. 139 patients with ADHD diagnosed according to DSM-Ⅳ criteria. 115 normal controls and 62 parental/affected trios were recruited in the study. Results For the 5-HTT promoter polymorphism 88bp longer than long（L） allele was observed among Chinese Han population ;it is designated xL. There were no significant differences in the frequencies of the genotypes and alleles of 5-HTTLPR between ADHD（ S/S, S/L, L/L genetypes ： 52.5% ,41.7% ,5.8% ; S, L alleles：73.4% ,26.6% ） and normal control （ S/S, S/L, L/L genetypes：58.3% ,32.2% ,9.5% ; S,L Alleles： 74.3% ,25.7% ） We did not observe biased transmission of the haplotypes of the alleles of this polymorphism. Conclusion Case-control analyses and within-familv tests suggest there may not be a role of 5- HTTLPR in ADHD.