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  

Relationship between the polymorphisms of GDI1,children NSMR and their intelligence in Qinba region

作　　者：张科进[1] 杜云[1] 郑子健[2] 高晓彩[1] 黄绍平[3] 李瑞林[3] 陈超[4] 张富昌[1] 

机构地区：[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

出　　处：《遗传》2008年第5期590-594,共5页Hereditas（Beijing)

基　　金：国家重点基础研究发展规划(973计划)项目(编号:2007CB516702);国家自然科学基金(编号:30470577)项目;国家十五科技攻关计划项目(编号:2001BA901A49)资助~~

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。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 rs 11549300 polymorphisms and children NSMR （P 〉0.05）, but its polymorphisms may be related to intelligence levelsof 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.

关 键 词：非特异性精神发育迟滞 智力 功能多态性 

分 类 号：Q987[生物学—遗传学]