Abstract: 【Objective】 To investigate the correlation between childhood autism and NLGN4X gene. 【Methods】 Two SNPs (rs5916269 and rs3810686) of NLGN4X gene 3'UTR were chosen for genetic marker.Genotypes of 276 members in 92 autism families were analyzed with Chain Termination Method.Then transmission disequilibrium test(TDT) was used to test the data of genotypes. 【Results】 No transmission disequilibrium association was found between autism and rs5916269 (TDT:χ²=0.385,P=0.620;HRR:χ²=0.345,P=0.557).Transmission disequilibrium was found between autism and rs3810686 (TDT:χ²=6.368,P=0.015;HRR:χ²=5.470,P=0.019). 【Conclusion】 The polymorphisms of rs5916269 in the NLGN4X are not associated with childhood autism,but the polymorphisms of rs3810686 in the NLGN4X are associated with childhood autism,NLGN4X gene may be susceptibility genes of autism.

Key words: autism, NLGN4X gene, polymorphism, DNA sequencing

摘要： 【目的】 探讨NLGN4X基因与中国汉族儿童孤独症是否存在相关性,查寻中国汉族儿童孤独症的易感基因。 【方法】 选取NLGN4X基因3'UTR区两个多态性位点rs5916269和rs3810686作为遗传标记,采用直接测序法对92个孤独症核心家系的276名成员进行基因型测定,并进行传递不平衡检验(TDT)和单倍型相对危险度(HRR)分析。 【结果】 TDT检验及HRR分析均显示儿童孤独症与rs5916269遗传标记位点不存在传递不平衡(TDT χ²=0.385,P=0.620;HRR χ²=0.345,P=0.557);与rs3810686遗传标记位点存在传递不平衡(TDT χ²=6.368,P=0.015;HRR χ²=5.470,P=0.019)。 【结论】 NLGN4X基因rs5916269位点与中国汉族儿童孤独症无关;rs3810686位点与中国汉族儿童孤独症相关,NLGN4X基因可能是孤独症的易感基因。

关键词: 孤独症, 神经连接蛋白-4基因, 多态性, DNA测序