NRXN1基因和MECP2基因SNP检测及其与儿童自闭症临床表现的关联研究  

NRXN1 gene and MECP2 gene SNP detection and its correlation with the clinical manifestations of children with autism

作　　者：邹甜甜[1] 李胜 方欣怡 柯海燕 魏莉平 沈翠 ZOU Tiantian;LI Sheng;FANG Xinyi;KE Haiyan;WEI Liping;SHEN Cui(Department of Clinical Laboratory,Huangshi Maternal and Child Health Hospital/Affiliated Maternal and Child Health Hospital of Hubei Institute of Technology,Huangshi,Hubei 435000,China;Department of Ultrasound,Huangshi Maternal and Child Health Hospital/Affiliated Maternal and Child Health Hospital of Hubei Institute of Technology,Huangshi,Hubei 435000,China)

机构地区：[1]鄂东医疗集团黄石市妇幼保健院/湖北理工学院附属妇幼保健院检验科,湖北黄石435000 [2]鄂东医疗集团黄石市妇幼保健院/湖北理工学院附属妇幼保健院超声科,湖北黄石435000

出　　处：《国际检验医学杂志》2022年第8期990-994,共5页International Journal of Laboratory Medicine

基　　金：湖北省卫生健康委员会科研项目(WJ2019H447)。

摘　　要：目的探讨神经轴突蛋白1(NRXN1)基因和甲基CpG结合蛋白-2(MECP2)基因单核苷酸多态性(SNP)与儿童自闭症临床表现及易感性的关系。方法选取2019年9月至2021年6月于该院就诊或进行康复治疗的128例自闭症患儿为自闭症组,同期选取该院145例体检健康儿童作为对照组。采用Sequenom MassArray platform分型技术检测NRXN1(rs1421589位点)和MECP2(rs2239464位点)基因型,采用孤独症儿童行为检查量表(ABC)评分对患儿临床行为进行测评,采用儿童孤独症评定量表(CARS)评分测评患儿病情严重程度;采用Logistic回归分析NRXN1和MECP2基因型对自闭症发生的影响。结果对照组和自闭症组NRXN1基因检出CC型、CT型、TT型3种基因型,MECP2基因检出AA型、AG型、GG型3种基因型。对照组中CC型基因型(49.66%)、AA型基因型(50.34%)比例较高;自闭症组中TT型基因型(57.81%)、GG型基因型(49.21%)比例较高。经吻合度检验,对照组和自闭症组NRXN1基因、MECP2基因SNP分布均符合Hardy-Weinberg平衡法则(NRXN1:χ^(2)=1.386、5.069;MECP2:χ^(2)=4.297、5.508,P>0.05)。NRXN1和MECP2不同基因型自闭症患儿感觉、交往等各因子得分、ABC总分及疾病严重程度比较,差异有统计学意义(P<0.05)。TT型基因型(rs1421589位点)、GG型基因型(rs2239464位点)是影响自闭症发生的独立危险因素(P<0.05)。结论NRXN1基因和MECP2基因SNP与儿童自闭症有关,携带基因型TT、GG的患儿有更严重的自闭症临床行为。Objective To investigate the relationship between single nucleotide polymorphisms(SNPs)of neurexin 1(NRXN1)gene and methyl-CpG-binding protein 2(MECP2)gene and the clinical manifestations and susceptibility of children with autism.Methods A total of 128 children with autism who were treated or undergoing rehabilitation in a hospital from September 2019 to June 2021 were selected as the autism group,and 145 healthy children were selected as the control group during the same period.Sequenom MassArray platform typing technology was used to detect NRXN1(rs1421589 locus)and MECP2(rs2239464 locus)genotypes,Autism Behavior Checklist(ABC)score was used to evaluate the children′s clinical behavior,the Child Autism Rating Scale(CARS)score was used to assess the severity of the children′s condition;Logistic regression was used to analyze the influence of NRXN1 and MECP2 genotypes on the occurrence of autism.Results Three genotypes of CC type,CT type and TT type were detected in the NRXN1 gene of the control group and the autism group,and three genotypes of AA type,AG type and GG type were detected in the MECP2 gene.In the control group,the proportions of CC genotype(49.66%)and AA genotype(50.34%)were higher;in the autism group,the proportions of TT genotype(57.81%)and GG genotype(49.21%)were higher.After the anastomosis test,the SNP distribution of NRXN1 gene and MECP2 gene in the control group and the autism group conformed to the Hardy-Weinberg equilibrium rule(NRXN1:χ^(2)=1.386,5.069;MECP2:χ^(2)=4.297,5.508,P>0.05).There were significant differences in the scores of factors such as sensory,communication and other factors,total ABC score and disease severity in children with autism with different genotypes of NRXN1 and MECP2(P<0.05).TT genotype(rs1421589 locus)and GG genotype(rs2239464 locus)were independent risk factors affecting the occurrence of autism(P<0.05).Conclusion NRXN1 gene and MECP2 gene SNP are related to autism in children,and children with genotypes TT and GG have more severe clinical behaviors of aut

关 键 词：儿童 自闭症 神经轴突蛋白1 甲基CpG结合蛋白-2 单核苷酸多态性 

分 类 号：R749.94[医药卫生—神经病学与精神病学]