| 应用PCR快速筛查脆性X综合征患儿 |
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| 引用本文： | 杨丹彤,贾颐舫,吴爱华,张爱东. 应用PCR快速筛查脆性X综合征患儿[J]. 中国优生与遗传杂志, 2010, 0(11): 29-30 |
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| 作者姓名： | 杨丹彤 贾颐舫 吴爱华 张爱东 |
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| 作者单位： | 山东省计划生育科学技术研究所,山东省优生技术重点实验室,山东济南250002 |
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| 基金项目： | 山东省科技攻关项目（项目编号003130135） |
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| 摘 要： | 目的应用PCR快速筛查脆性X综合征患儿。方法采用PCR和聚丙烯酰胺凝胶电泳技术,对24例不明原因智力低下患儿的脆性X基因（CGG）n重复序列进行检测。结果在24例不明原因智力低下患儿中,筛查出1例脆性X综合征患者。结沦采用PCR技术扩增脆性X基因的（CGG）n重复序列,可对脆性X综合征患者进行快速筛查。
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| 关 键 词： | 脆性X综合征 聚合酶链反应 筛查 |
Rapid screening for fragile X syndrome by PCR |
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| YANG Dan-tong,JIA Yi-fang,WU Ai-hua,ZHANG Ai-dong. Rapid screening for fragile X syndrome by PCR[J]. Chinese Journal of Birth Health & Heredity, 2010, 0(11): 29-30 |
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| Authors: | YANG Dan-tong JIA Yi-fang WU Ai-hua ZHANG Ai-dong |
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| Affiliation: | .(Shandong Provincial Key Laboratory for Improving Birth Outcome Technique,Shandong Provincial Family Planning Science and Technology Institute,Shandong Ji＇nan,250002) |
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| Abstract: | Objective：To screen fragile X syndrome by a rapid PCR method.Methods：The CGG repeat region in the FMR1 gene was amplified by PCR and was detected by PAGE in 24 children with unexplained mental retardation.Results：1 patient with fragile X syndrome was detected from 24 children with mental retardation.Conclusion：This PCR protocol is simple,rapid and low cost,and can be applied for screening for fragile X syndrome. |
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| Keywords: | Fragile X syndrome PCR Screening |
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