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【目的】探讨神经胶质素-4(Neuroligin-4)基因多态性与中国汉族儿童孤独症的关系。【方法】应用聚合酶链式反应与限制性片段长度多态性(PCR-RFLP)分析方法对80名中国汉族孤独症儿童及82名正常对照儿童进行2个SNP位点rs3810686和rs5916271的等位基因和基因型测定。【结果】Neuroligin-4单核苷酸多态性片段rs3810686和rs5916271的基因型分布频率符合Hardy-Weinberg(P>0.05),并且孤独症组和正常对照组在上述各位点等位基因频率和基因型分布无显著差异(P>0.05)。【结论】Neuroligin-4基因上的2个单核苷酸多态性片段rs3810686和rs5916271与儿童孤独症的发病无关联。
【Objective】 To investigate the relationship between the neuroligin-4 gene polymorphism and autism in Chinese Han children. 【Methods】 Polymorphisms of rs3810686 and rs5916271 in two Chinese Han children with autism and 82 normal controls were detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) Gene and genotyping. 【Results】 The frequencies of genotypes of rs3810686 and rs5916271 in Neuroligin-4 SNPs were in accordance with Hardy-Weinberg (P> 0.05), and the frequencies of alleles and genes in the autism group and the normal control group Type distribution no significant difference (P> 0.05). 【Conclusion】 The two single nucleotide polymorphisms (SNPs) rs3810686 and rs5916271 in Neuroligin-4 gene are not associated with autism in children.