神经胶质素-4基因多态性与儿童孤独症关系的初步研究

Preliminary investigation of relationship between Neuroligin-4 and childhood autism

【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 Neuroligin-4 polymorphism and childhood autism in the Chinese han population. 【Method】 Polymerase chain reaction-restricted fragment length polymorphism（PCR-RFLP）was used to determine allele and genotype of two SNPs（rs3810686 and rs5916271） of Neuroligin-4 in 80 Chinese Han autism children. 【Results】 The genotype distributions of the SNP（rs3810686 and rs5916271） in autism group and control group was consistent with the Hardy-Weinberg equilibrium（P〉0.05）.There was not significant difference in the distribution of the allelic frequencie and genotype between the two groups（P〉0.05）. 【Conclusion】 The polymorphisms of rs3810686 and rs5916271 in the Neuroligin-4 are not associated with childhood autism.