Abstract: AbstractObjectiveTo investigate the relationship of dopamine transporter allele 440bp and childhood autism. MethodsAnalyzing the correlation of childhood autism among Chinese Han nationality and the gene polymorphism of dopamine transporter (DAT1) by PCR technique from March to August of 2004. Results(1)Five alleles (320bp，360bp，440bp，480bp，520bp )and 6 gene type(480/480，480/320，520/480，480/360，480/440,440/440)of DAT1 gene polymorphism were found.(2)The allele and gene type of CA and DAT were evaluated by relative hazard.The results showed that gene type 480/440 and allele 440 correlated significantly with CA,and their relative hazard were 265 and 23.They also showed that gene type 480/480 and allele 480 correlated negatively,but was statistical unsignificant,and their relative hazard was 064 and 077. ConclusionThere is no genetic correlation between DAT1440bp and childhood autism among Chinese Han nationality.The allele 440bp and gene type 480bp/440bp may be two risk factors,but it needs to be further investigated.

Key words: DAT1440bp

摘要： 目的探讨儿童孤独症(CA)与多巴胺转运体(DAT1)440bp等位基因的关系。 方法陕西省纺织医院等于2004年3~8月，采用PCR技术对来自西安市两所康复中心的汉族CA儿童与DAT1基因多态性进行遗传关联分析。 结果(1)DAT1基因多态性中共观察到5种等位基因(320bp，360bp，440bp，480bp，520bp)，6种基因型(480/480，480/320，520/480，480/360，480/440,440/440)。(2)使用相对危险度RR对CA与DAT1基因多态性的等位基因和基因型进行关联分析，显示480/440基因型和等位基因440与CA呈正关联，相对危险度分别为265和230，480/480基因型和等位基因480与CA呈负关联，相对危险度分别为064和077。但统计结果没有发现具有统计意义的差异。 结论中国汉族CA儿童与DAT1440bp等位基因无遗传关联。也许等位基因440bp与基因型480bp/440bp这两个因素是发病的风险因素,还有待今后的进一步研究。

关键词: 儿童孤独症, DAT1440bp