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。
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.
出处
《中国优生与遗传杂志》
2010年第11期29-30,共2页
Chinese Journal of Birth Health & Heredity
基金
山东省科技攻关项目(项目编号003130135)
