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儿童智能发育迟缓与MeCP2基因第3外显子突变关联性的初步探讨 被引量：1

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摘要 目的:研究儿童智能发育迟缓(MR)与甲基化CpG结合蛋白2(MeCP2)基因第3外显子突变是否存在相关性。方法:智能发育迟缓患儿30例,正常对照组30例,提取外周血DNA,采用聚合酶链式反应(PCR)技术扩增MeCP2基因第3外显子,DNA直接测序,对小儿智能发育迟缓与MeCP2基因第3外显子检测进行相关性分析。结果:30名正常儿童未发现有MeCP2基因第3外显子的突变,30名MR患儿中2例存在MeCP2基因第3外显子的突变。结论:①在智能发育迟缓的患儿中存在MeCP2基因第3外显子的突变,以点突变为主;②MeCP2基因第3外显子的突变与儿童智能发育迟缓的相关性还有待证明。
作者 韩蕴丽 于道华
机构地区 广西医科大学第一附属医院儿科
出处 《广西医科大学学报》 CAS 北大核心 2008年第5期683-684,共2页 Journal of Guangxi Medical University
基金 广西自然科学基金项目(No.桂科自0640120)
关键词 儿童智能发育迟缓 甲基化CpG结合蛋白2 基因突变 关联性
分类号 R72 [医药卫生—儿科]
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参考文献11

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共引文献123

同被引文献25

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引证文献1

广西医科大学学报
2008年 第5期

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