Shank3基因单核苷酸多态性与中国汉族儿童孤独症的关联

目的 探讨Shank3基因单核苷酸多态性(SNPs)与中国汉族儿童孤独症之间的关系.方法 采用PCR与限制性片段长度多态性(PCR-RFLP)分析方法对82例孤独症儿童及80例健康儿童Shank3基因上的2个SNPs位点rs9616915和rs13057681的基因型和等位基因进行测定.采用病例-对照方法分析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.结果 1.健康对照组和孤独症组儿童观察值和预期值间差异均无统计学意义(Pa>0.05),即健康对照组和孤独症组均符合Hardy-Weinberg遗传平衡法则.2.二组儿童rs9616915和rs13057681位点等位基因频率和基因型分布上差异无统计学意义(rs9616915:基因型χ2=0.452,P>0.05;等位基因χ2=0.217,P>0.05;rs13057681:基因型χ2=0.256,P>0.05;等位基因χ2=0.173,P>0.05).结论 Shank3基因rs9616915和rs13057681SNPs片段与中国汉族儿童孤独症的发病无关,孤独症的易感基因有待于进一步研究.

Relationship between Single Nucleotide Polymorphisms of Shank3 Gene and Childhood Autism in Chinese Han Population

Objective To investigate the relationship between single nucleotide polymorphisms(SNPs) of Shank3 gene and childhood autism in Chinese Han population.Methods Polymerase chain reaction-restricted fragment length polymorphism(PCR-RFLP) was used to determine genotype and allele of 2 SNPs(rs9616915 and rs13057681)of Shank3 gene in 82 Chinese Han autism children and 80 healthy children.The distribution of SNPs Loci allele were analyzed through case-control study,and SNPs Loci in autism group and the healthy control group were examined regarding Hardy-Weinberg equilibrium tests.Results 1.The genotype distributions of the SNPs in healthy control group and autism group were consistent with the Hardy-Weinberg equilibrium(Pa>0.05).2.There was no significant difference in the distribution of the allelic frequency and genotype between the 2 groups(rs9616915: genotype frequency χ2=0.452,P>0.05;allelic frequency χ2=0.217,P>0.05;rs13057681: genotype frequency χ2=0.256,P>0.05;allelic frequency χ2=0.173,P>0.05).Conclusion The polymorphisms of rs9616915 and rs13057681 in the Shank3 gene are not associated with childhood autism in Chinese Han population,etiological genes of children autism need further research.