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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
引用本文:马丹,王立苹,郭岚敏,吕智海,田世杰,姜志梅.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[J].实用儿科临床杂志,2010(8).
作者姓名:马丹  王立苹  郭岚敏  吕智海  田世杰  姜志梅
作者单位:佳木斯大学附属第三医院发育与行为儿科佳木斯大学儿童神经康复实验室;
基金项目:黑龙江省研究生创新科研项目(YJSCX2009-114HLJ)
摘    要: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...

关 键 词:孤独症  神经连接蛋白-4基因  多态性  限制性片段长度  

Relationship between Neurolingin-4 Gene Single Nucleotide Polymorphisms and Childhood Autism
MA Dan,WANG Li-ping,GUO Lan-min,LV Zhi-hai,TIAN Shi-jie,JIANG Zhi-mei.Relationship between Neurolingin-4 Gene Single Nucleotide Polymorphisms and Childhood Autism[J].Journal of Applied Clinical Pediatrics,2010(8).
Authors:MA Dan  WANG Li-ping  GUO Lan-min  LV Zhi-hai  TIAN Shi-jie  JIANG Zhi-mei
Institution:MA Dan,WANG Li-ping,GUO Lan-min,LV Zhi-hai,TIAN Shi-jie,JIANG Zhi-mei(Department of Child Development , Behavior,the Third Affiliated Hospital of Jiamusi University/Children Neurological Rehabilitation Lab,Jiamusi University,Jiamusi 154003,Heilongjiang Province,China)
Abstract: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 a...
Keywords:autism  neurolingin-4 gene  polymorphism  restricted fragment length  
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