| NOTCH4基因多态性与儿童孤独症的相关性 |
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| 引用本文： | 延正红,王桂香,吴飞,史杰萍,于雅琴.NOTCH4基因多态性与儿童孤独症的相关性[J].中国儿童保健杂志,2007,15(5):487-488. |
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| 作者姓名： | 延正红 王桂香 吴飞 史杰萍 于雅琴 |
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| 作者单位： | 1. 吉林大学第二医院儿童保健科,吉林,长春,130041
2. 吉林大学基因组研究中心,吉林,长春,130021 |
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| 摘 要： | 【目的】探讨NOTCH4基因的两个单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点rs367398和rs520688与儿童孤独症之间的相关性。【方法】采用聚合酶链式反应(polymerase chain reaction,PCR)-限制性片段长度多态性(restriction fragment length polymorphism,RFLP)方法对中国北方地区孤独症患儿及对照组进行rs367398和rs520688的基因型鉴定。【结果】两个位点的等位基因与基因型频率在对照组与患者组间差异均无显著性(P>0.05),并且两个位点均与孤独症病情程度无关联(P>0.05)。【结论】NOTCH4基因多态性与儿童孤独症无关联,孤独症的病因基因有待于进一步研究。
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| 关 键 词： | 孤独症 多态性 单核苷酸 |
| 文章编号： | 1008-6579（2007）05-0487-02 |
| 收稿时间： | 2007-03-08 |
| 修稿时间： | 2007年3月8日 |
Relationship between the polymorphisms in NOTCH4 and children autism |
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| YAN Zheng-hong,WANG Gui-xiang,WU Fei,SHI Jie-ping,YU Ya-qin.Relationship between the polymorphisms in NOTCH4 and children autism[J].Chinese Journal of Child Health Care,2007,15(5):487-488. |
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| Authors: | YAN Zheng-hong WANG Gui-xiang WU Fei SHI Jie-ping YU Ya-qin |
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| Institution: | 1 The Children Care Department, The Second Hospital of Jilin University, Changchun, Jilin 130041 ,China; 2 Jilin University Research Center for Genomic Medicine, Changchun,Jilin 130021, China |
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| Abstract: | Objective] To investigate the relationship between single nucleotide polymorphisms (SNPs)of the NOTCH4 genetic rs367398 and rs520688 and children autism. Method] The polymerase chain reaction(PCR) -based restriction fragment length polymorphism (RFLP) technique was used to identify genotypes of rs367398 and rs520688 among 24 children with autism and 30 normal children in northern China. Results] The frequencies of these NOTCH4 alleles and genotypes had no significant difference between two groups(P>0.05).rs367398 and rs520688 locuses had no correlation with pathogenetic condition of autism(P>0.05). Conclusions] The polymorphisms of rs367398 and rs520688 in the NOTCH4 are not associated with children autism. Etiological genes of children autism need further research. |
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| Keywords: | autism polymorphism single nucleotide |
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