BRWD3基因与秦巴山区精神发育迟滞的相关性  

The association of BRWD3 gene with the mental retardation in Qin-ba Mountain region

作　　者：李军林[1] 李洛然[1] 邢连喜[1] 张美杰[1] 杨星[1] 郑子健[2] 李静[2] 张富昌[1,2] 高晓彩[1,2] 

机构地区：[1]西北大学生命科学学院/人口与健康研究所,陕西西安710069 [2]西北大学公共管理学院/应用心理学研究所,陕西西安710127

出　　处：《西北大学学报（自然科学版）》2012年第6期961-965,共5页Journal of Northwest University（Natural Science Edition）

基　　金：国家自然科学基金资助项目(31071103);西部资源生物与现代生物技术教育部重点实验室开放基金资助项目(ZS11005);西北大学自然科学基金资助项目(NH10001);西北大学科研启动金基金资助项目(PR10066)

摘　　要：目的探究BRWD3基因与秦巴山区精神发育迟滞(Mental Retardation,MR)的相关性。方法采用PCR-SSCP法结合测序结果,对病例-对照样本BRWD3基因的8个SNP标记位点的多态性进行检测。结果 (1)单位点分析结果表明,rs3106407、rs12689192、rs7049509多态性与秦巴山区MR有显著相关性(P<0.01);(2)单倍型分析结果显示8个SNP位点3个与3个间分别组成了4个独立的单倍型块,并表现出了与MR的相关性(Global P值均<0.01)。结论 BRWD3基因可能与秦巴山区MR有关,致病机理有待进一步通过分析外显子突变、蛋白表达以及参与的转录调控机制等方面展开深入研究。Aim To investigate the possible genetic association between BRWD3 gene and the mental retardation （MR） in Qin-ba Mountain region. Methods PCR-SSCP and DNA sequencing were used to detect through screen- ing 8 SNP loci in BRWD3 gene with the sample of case-control. Results The results exhibited the polymorphisms of rs3106407, rs12689192, and rs7049509 were significantly related with MR（P 〈 0.01 ）. With the UNPHASE software analysis （window size = 3 ）, it was positive relationship between the MR and the modules consisted of rs7059257-rs3106407-rs12556865, rs3106407-rs12556865-rs4567187, rs12556865-rs4567187-rs3123257, and rs4567187-rs3123257-rs1967508 （the whole value of Global P is under 0. 01 separately）. Conclusion The BRWD3 is significantly associated with MR in Qin-ba Mountain region. However, the underlying mechanism needs further investigation on exon mutations, relevant proteins＇ expression and modulation.

关 键 词：精神发育迟滞 BRWD3 PCR-SSCP 

分 类 号：Q987[生物学—遗传学]