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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。
Objective To explore the relationship between children with autism (CA) and dopamine transporter (DAT1) 440bp allele. Methods From March to August in 2004, Shaanxi Textile Hospital was used to analyze the genetic association of DAT1 gene polymorphism and Han Chinese CA children from two rehabilitation centers in Xi’an by PCR. Results (1) Five alleles (320bp, 360bp, 440bp, 480bp, 520bp) and six genotypes (480 / 480,480 / 320,520 / 480,480 / 360,480 / 440,440 / 440) were observed in the DAT1 gene polymorphism. (2) Correlation analysis between allele and genotype of CA and DAT1 gene polymorphism using relative risk (RR) showed that 480/440 genotype and allele 440 were positively correlated with CA, with relative risk of 2 · 65 and 2.30, 480/480 genotype and allele 480 and CA were negatively correlated, the relative risk were 0.64 and 0.77. However, no statistically significant differences were found in the statistical results. Conclusion There is no genetic association between CA Han children and DAT1440bp allele in Chinese Han population. Maybe the 440bp allele and 480bp / 440bp genotypes are the risk factors of onset, yet to be further studied in the future.