| GABRA4基因多态性与儿童孤独症的相关性研究 |
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| 引用本文： | 姚梅玲,郭萌.GABRA4基因多态性与儿童孤独症的相关性研究[J].中国妇幼保健,2010,25(10). |
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| 作者姓名： | 姚梅玲 郭萌 |
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| 作者单位： | 郑州大学第三附属医院儿童心理行为中心,河南,郑州,450052 |
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| 基金项目： | 河南省医学科技攻关计划资助项目(201003073) |
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| 摘 要： | 目的:通过对GABRA4基因上单核苷酸多态性位点rs2229940的检测,探讨GABRA4基因多态性与儿童孤独症的关系。方法:在中国汉族孤独症49个核心家系(孤独症患者49人,父母94人)及正常对照人群(158人)中,应用聚合酶链反应-限制性酶切片段多态性(PCR-RFLP)技术,测定了本位点的等位基因和基因型,进行以核心家系为基础的传递不平衡检验(TDT)及病例对照的关联研究。结果:病例对照关联研究中,rs2229940多态位点等位基因频率(χ2=4.128,P=0.040)及基因型(χ2=9.438,P=0.009)比较均发现差异有统计学意义。结论:提示GABRA4基因可能与孤独症有关联。
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| 关 键 词： | 儿童孤独症 GABRA4 传递不平衡 单核苷酸多态性 |
Correlative study on gene polymorphism of GABRA4 and childhood autism |
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| YAO Mei-Ling,GUO Meng.Correlative study on gene polymorphism of GABRA4 and childhood autism[J].Maternal and Child Health Care of China,2010,25(10). |
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| Authors: | YAO Mei-Ling GUO Meng |
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| Institution: | YAO Mei-Ling,GUO Meng.Center of Children Psychology , Behavior,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,Henan,China |
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| Abstract: | Objective:To explore the relationship between gene polymorphism of GABRA4 and childhood autism by detecting rs2229940 site of single-nucleotide polymorphism (SNP) in GABRA4 gene.Methods:The allele and genotype of SNP rs2229940 site in GABRA4 gene were detected by PCR-RFLP among 49 core families (49 children with autism and 94 parents) and 158 normal children with autism in Han Nationality,on the basis of core families,transmission disequilibrium test (TDT) and case-control association study were carried out... |
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| Keywords: | Childhood autism GABRA4 Transmission disequilibrium test Single nucleotide polymorphism |
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