5-HT转运体基因多态性与孤独症核心家系的关联研究

Family-based Association Study of the serotonin transporter Gene Polymorphism and Autism in the Chinese trios

目的 :探讨中国汉族人群 5 -HT转运体基因多态性 (HTTSNP1 8)与孤独症的关系。方法 :应用聚合酶链式反应与限制性片断长度多态性 (PCR -RFLP)分析方法对 175个孤独症核心家系测定基因型和等位基因。结果 :孤独症患儿与父母的基因频率和基因型频率的分布呈基本一致的趋势。传递不平衡检验(TDT)显示等位基因传递无统计学意义 ,(McNemarχ2 =0 0 0 ,P >0 0 5 )。结论 :本研究未发现 5 -HT转运体基因多态性 (HTTSNP1 8)与孤独症存在关联 ,提示该基因多态性不影响孤独症的易感性 ,在中国汉族孤独症发病中不起主要作用。

Objective:To investigate the association between the serotonin transporter gene polymorphism HTT SNP 18 and autism.Methods:The serotonin transporter gene polymorphism HTT SNP 18 was tested by PCR-RFLP in 175 Chinese autism family trios. Results:The polymorphism had no significant evidence for preferential transmission of an allele by the transmission disequilibrium test (TDT) (χ 2=0.00, P>0.05).Conclusion:There was likely no association between the polymorphism at the serotonin transporter gene and autism. The serotonin transporter gene polymorphism might not play a causal role in the development of autism.