OPHN1基因rs492933位点多态性与秦巴山区汉族儿童非特异精神发育迟滞的相关性研究  

Anassociation study between OPHN1 gene rs492933 polymorphism and mental retardation in children of the Qinba Mountain region

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

机构地区：[1]西北大学生命科学学院 [2]西北大学公共管理学院应用心理研究所,西安710069 [3]西北大学国家微检测中心,西安710069 [4]西安交通大学医学院第二附属医院,西安710004

出　　处：《遗传》2008年第10期1307-1311,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);国家自然科学基金项目(编号:30470577);国家十五科技攻关计划项目(编号:2001BA901A49)资助~~

摘　　要：OPHN1基因编码RhoGTP酶激活蛋白(RhoGAP),是X连锁的与非特异性精神发育迟滞有关的基因之一。采用PCR-RFLP方法,对234名陕西秦巴山区正常的汉族儿童以及精神发育迟滞(Mental retardation,MR)患者的OPHN1基因5′非翻译区中的单核苷酸多态位点(Single nucleotide polymorphism,SNP)rs492933的等位基因频率和基因型频率以及是否与非特异精神发育迟滞相关进行分析。结果发现:这一位点基因频率C为0.826,T为0.174;MR组与对照组之间基因型频率和基因频率没有显著性差异,边缘组与对照组之间基因型频率和基因频率也没有显著性差异。证明OPHN1基因内SNP rs492933的多态性与秦巴山区汉族儿童精神发育迟滞不存在相关性。The OPHN1 gene encodes a Rho-GTPase activating protein （RhoGAP）, and mutations in OPHN1 are responsible for non-specific X-linked mental retardation （NSMR）. A SNP located in the 5＇-untranslated region （UTRs） of OPHN1 （rs492933） was examined by PCR-RFLP to assess its contribution to cognitive ability in 234 unrelated healthy and MR children in the Qinba Mountain region in Shaanxi. The allelic frequencies of rs492933 were 0.826 for the C allele and 0.174 for the T allele. Genotype frequencies and allelic frequencies were not significantly different between the MR and the controis, or between the borderline group and the controls. In conclusion, there is no association between the OPHN1 gene polymorphism and NSMR in the Qinba Mountain region children.

关 键 词：OPHN1基因 单核苷酸多态性 精神发育迟滞 

分 类 号：R749.94[医药卫生—神经病学与精神病学]