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.
出处
《遗传》
CAS
CSCD
北大核心
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~~
关键词
OPHN1基因
单核苷酸多态性
精神发育迟滞
oligophrenin-1 （OPHN1）
single nucleotide polymorphism （SNP）
mental retardation
