儿童自闭症与金属硫蛋白Ⅲ基因多态性相关性研究  

Study on the relationship between gene polymorphism of metallothionein Ⅲ and childhood autism

作　　者：黄伏生[1] 向飞艳[1] 薛寒[1] 郑芳[1] 

机构地区：[1]武汉大学中南医院基因诊断中心,430071

出　　处：《中华临床医师杂志（电子版）》2011年第9期2559-2562,共4页Chinese Journal of Clinicians(Electronic Edition)

基　　金：湖北省计生委基金项目(JS-2010010)

摘　　要：目的研究金属硫蛋白Ⅲ(MT3)基因内含子区rs45570941多态性与儿童自闭症的关系,同时比较在正常儿童和自闭症患儿中基因型的分布情况和等位基因频率。方法收集71例正常对照儿童和72例诊断为自闭症儿童的外周血标本,提取DNA,运用聚合酶链反应-限制性片段多态性(PCR-RFLP)方法,分别对MT3基因单核苷酸多态性(SNP)进行分析。结果自闭症儿童组与对照组rs45570941多态性位点的等位基因和基因型的频数分布均符合Hardy-Weinberg平衡检验(χ2=2.96,υ=1,P>0.05;χ2=4.14,υ=1,P>0.05);自闭症儿童组与对照组MT3基因rs45570941多态性位点的基因型分布和等位基因频率的总体分布有统计学差异(χ2=13.569,P<0.05;χ2=6.89,P<0.05)。结论在本研究人群中,MT3的多态性位点rs45570941与自闭症的发生有一定的相关性,如果进一步加大样本量和挑选更多的SNP位点进行深入研究,对自闭症的病因将会有更多的发现。Objective To investigate the relationship between metallothionein Ⅲ(MT3) gene intron rs45570941 polymorphism and childhood autism,and to compare the distribution of genotypes and alleles in autistic children and the normal.Methods Extracting DNA samples and then using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method,we analyzed MT3 gene SNP of 72 autistic childern and 71 normal childern in Hubei province.Results The distributions of MT3 SNP (rs45570941) were in Hardy-Weinberg balance(χ2=2.96,υ=1,P>0.05;χ2=4.14,υ=1,P>0.05);There were significant differences in the the frequencies of the genotypes and alleles between autistic childern and controls(χ2=13.569,P<0.05;χ2=6.89,P<0.05).Conclusions In our study,there is a relationship between rs45570941 polymorphism of MT3 gene and childhood autism.Further study should be conducted to get more discoveries on the causes of childhood autism by gathering more samples or selecting other associated SNPs.

关 键 词：孤独性障碍 儿童 金属硫蛋白 多态性 单核苷酸 

分 类 号：R749.94[医药卫生—神经病学与精神病学]