自闭症患儿与GABRB3基因多态性的关系研究

Study on the relationship between autism and GABRB3 gene polymorphism in children

目的研究γ-氨基丁酸A受体β3亚基(GABRB3)基因多态性与儿童自闭症的关系,同时比较在正常儿童与自闭症患儿基因型的分布及等位基因频率。方法收集78例正常儿童和78例自闭症患者的外周血标本,提取DNA,运用聚合酶链式反应—限制性片段多态性(PCR-RELP)法对研究对象GABRB3基因rs8179184位点、rs4906902位点单核苷酸多态性进行分析比较。运用Logistic二元回归分析影响自闭症患儿发病的危险因素。结果经Hardy-weinberg遗传平衡吻合度检验,对照组与自闭症患儿组GABRB3基因rs8179184、rs4906902位点均符合Hardy-weinberg遗传平衡定律(P>0.05)。与对照组相比,自闭症患儿组rs8179184位点C/A点突变率显著升高(P<0.05),rs4906902基因型频率差异无统计学意义(P>0.05);GABRB3基因多态性位点rs8179184中,与基因型CC自闭症患儿相比,CA、AA型患儿CBQ-R评分显著升高(P<0.05),与基因型CA患儿相比,基因型AA患儿CBQ-R评分显著升高,差异有统计学意义(P<0.05)。二元Logistic回归分析显示,GABRB3基因rs8179184位点CA、AA型是自闭症患儿发病的危险因素(P<0.05)。结论GABRB3基因rs8179184位点CA、AA型与自闭症患儿的发病密切相关。

Objective To research the relationship between GABRB3 gene polymorphism and autism in children,compare the distribution of genotypes and frequency of alleles between normal children and autism children. Methods The peripheral blood specimens of78 normal children and 78 autism children were collected,DNA was abstracted,PCR-RELP was used to analyze and compare single nucleotide polymorphisms of GABRB3 gene rs8179184 locus and rs4906902 locus,bivariate Logistic regression analysis was used to analyze the risk factors of autism in children. Results GABRB3 gene rs8179184 locus and rs4906902 locus met Hardy-Weinberg law of genetic equilibrium in the two groups (P>0. 05). Compared with control group,the incidence rate of C/A mutation of rs8179184 locus in autism group increased significantly (P < 0. 05),there was no statistically significant difference in the frequency of genotypes of rs4906902 locus (P >0. 05);in rs8179184 locus,compared with the autism children with CC genotype,CBQ-R scores in children with CA and AA genotypes increased significantly (P<0. 05),compared with the autism children with CA genotype,CBQ-R score in children with AA genotype increased significantly (P<0. 05). Bivariate Logistic regression analysis showed that CA and AA genotypes in GABRB3 gene rs8179184 locus were the risk factors of autism in children (P<0. 05). Conclusion CA and AA genotypes in GABRB3 gene rs8179184 locus are closely correlated with occurrence of autism in children.