神经连接蛋白-4基因单核苷酸多态性与孤独症患儿的关系

Relationship between Neurolingin-4 Gene Single Nucleotide Polymorphisms and Childhood Autism

目的探讨神经连接蛋白-4(NLGN4X)基因单核苷酸多态性(SNPs)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40例中国汉族孤独症儿童(孤独症组)及40例健康对照儿童(健康对照组)进行2个SNPs位点rs7049300和rs1882260的等位基因和基因型测定。用病例-对照分析SNPs位点等位基因的分布,对孤独症组和健康对照组SNPs位点进行Hardy-Weinberg平衡检验,采用SPSS12.0软件进行统计学分析。结果NLGN4X基因SNPs片段rs7049300和rs1882260的基因型分布频率符合Hardy-Weinberg(χ2=0.008、0.144,Pa>0.05),孤独症组和健康对照组在上述各位点等位基因频率和基因型分布均无统计学差异[rs7049300:χ2(基因型)=1.382,χ2(等位基因)=0.928,Pa>0.05;rs1882260:χ2(基因型)=0.811,χ2(等位基因)=0.921,Pa>0.05]。结论NLGN4X基因上的2个SNPs片段rs7049300和rs1882260与儿童孤独症的发病无关,孤独症的病因基因有待于进一步研究。

Objective To investigate the relationship between single nucleotide polymorphisms （SNPs） of neurolingin-4（NLGN4X） gene and childhood autism in Chinese han population.Methods Polymerase chain reaction-restricted fragment length polymorphism（PCR-RFLP）was used to determine allele and genotype of 2 SNPs （rs7049300 and rs1882260） of NLGN4X in 40 Chinese Han autism children（autism group） and 40 healthy children（healthy control group）.Using statistical software SPSS 12.0,the distribution of SNPs Loci allele were analyzed through case-control study,and SNPs loci of autism group and the healthy control group were tested regarding Hardy-Weinberg equilibrium tests.Results The genotype distributions of the SNPs（rs7049300 and rs1882260） in autism group and healthy control group were consistent with the Hardy-Weinberg equilibrium（χ2=0.008,0.144,Pa0.05）.There was not significant difference in the distribution of the allelic frequency and genotype between the two groups[rs7049300：χ2（genotype frequency）=1.382,χ2（allelic frequency）=0.928,Pa0.05;rs1882260：χ2（genotype frequency）=0.811,χ2（allelic frequency）=0.921,Pa0.05].Conclusions The polymorphisms of rs7049300 and rs1882260 in the NLGN4X are not associated with childhood autism,etiological genes of children autism need further research.