| GDI1基因多态性与秦巴山区儿童NSMR及其智力水平的相关性研究 |
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| 引用本文： | 张科进,杜云,郑子健,高晓彩,黄绍平,李瑞林,陈超,张富昌.GDI1基因多态性与秦巴山区儿童NSMR及其智力水平的相关性研究[J].遗传,2008,30(5):590-594. |
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| 作者姓名： | 张科进 杜云 郑子健 高晓彩 黄绍平 李瑞林 陈超 张富昌 |
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| 作者单位： | 1. 西北大学生命科学学院人口与健康研究所, 西安 710069;2. 西北大学公共管理学院应用心理学研究所, 西安 710069;3. 西安交通大学第二属附医院, 西安 710004;4. 西北大学国家微检测中心, 西安 710069 ; |
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| 基金项目： | 国家重点基础研究发展计划(973计划)，国家自然科学基金，国家科技攻关项目 |
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| 摘 要： | 用来自中国中西部秦巴山区的非特异性精神发育迟滞患者及正常对照人群为样本, 通过研究分别位于GDI1基因第7外显子剪接区和第8外显子上的rs2276462和rs11549300两个功能SNP位点的多态性, 探索GDI1基因的多态现象与当地儿童的精神发育迟滞及其智力水平的相关性。在样本人群中仅观察到rs11549300位点的多态现象, 而rs2276462位点在秦巴山区儿童中十分保守。病例-对照分析结果显示, rs11549300位点多态性与秦巴山区儿童的非特异性精神发育迟滞无显著相关性(P>0.05), 但是其多态现象可能与当地儿童的智力水平有一定的相关性(P=0.03), 但是这一结论还需要在更大样本中, 通过选择更多的遗传标记来进一步确证。
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| 关 键 词： | 非特异性精神发育迟滞 智力 功能多态性 |
| 收稿时间： | 2007-10-10 |
| 修稿时间： | 2007年10月10 |
Relationship between the polymorphisms of GDI1, chil-dren NSMR and their intelligence in Qinba region |
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| ZHANG Ke-Jin,DU Yun,ZHENG Zi-Jian,GAO Xiao-Cai,HUANG Shao-Ping,LI Rui-Lin,CHEN Chao,ZHANG Fu-Chang.Relationship between the polymorphisms of GDI1, chil-dren NSMR and their intelligence in Qinba region[J].Hereditas,2008,30(5):590-594. |
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| Authors: | ZHANG Ke-Jin DU Yun ZHENG Zi-Jian GAO Xiao-Cai HUANG Shao-Ping LI Rui-Lin CHEN Chao ZHANG Fu-Chang |
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| Institution: | 1. College of Life Science, Institute of Population and Health, Northwest University, Xi’an 710069, China;2. College of Public Management, Institute of Application Psychology, Northwest University, Xi’an 710069, China;3. Second Hospital, Xi’an Jiaotong University, Xi’an 710004, China;4. National Engineering Research Center for Miniaturized Detection System, Xi’an 710069, China ; |
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| Abstract: | The subjects of this study were recruited from Zha Shui and An Kang counties in the Qinba mountain region located in Middle-west China. The present study discussed the relationship between the variations of GDI1 with the children NSMR and their intelligence levels. The case-control association analysis method was used to analyze the association between the polymorphisms of two functional SNPs (rs2276462 and rs11549300) located in splicing site of the seventh exon and the eighth exon respectively, with NSMR and their different intelligence levels. It does not find out the polymorphism of rs2276462, because of its conservation. The results of case-control analysis indicated that, no association between the rs11549300 polymorphisms and children NSMR (P >0.05), but its polymorphisms may be related to intelligence levels of children in Qinba region (P =0.03). And a further work should be done to verify the conclusion of this study using the more genetic markers of GDI1 in a larger sample. |
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