多重连接依赖的探针扩增技术检测先天性心脏病患儿的22q11微缺失
다중련접의뢰적탐침확증기술검측선천성심장병환인적22q11미결실
Clinical detection of 22q11 microdeletion in the patients with congenital heart disease by multiplex ligation dependent probe amplification
  • 万方数据
    中华儿科杂志 중화인과잡지
    Chinese Journal of Pediatrics
    2011年 4期 316-320 ,共5页

    陈瑛%阚惠娟%毛君%丁洁%孟庆霞%李海波%程洪波%刘敏娟%孙颖%严文华%李红

    진영%감혜연%모군%정길%맹경하%리해파%정홍파%류민연%손영%엄문화%리홍

    先天性心脏病%22q11微缺失%MLPA 先天性心髒病%22q11微缺失%MLPA
    선천성심장병%22q11미결실%MLPA
    Congenital heart disease%22q11 microdeletion%Multiplex ligation dependent probe amplification
    目的 检测先天性心脏病患儿的22q11微缺失情况.方法 采用商品化的多重连接依赖探针扩增(Multiplex ligation dependent probe amplification,MLPA)P250试剂盒,检测100例散发的先天性心脏畸形样本,其中40例产前超声诊断为心脏畸形的胎儿,60例为先天性心脏病患儿.结果 心脏畸形的胎儿有2例为22q11微缺失,先天性心脏病患儿有1例22q11微缺失;3例检测出22q11微缺失的患儿,2例为3M典型缺失,1例为非典型缺失.结论 在先天性心脏病患儿中存在22q11微缺失.
    목적 검측선천성심장병환인적22q11미결실정황.방법 채용상품화적다중련접의뢰탐침확증(Multiplex ligation dependent probe amplification,MLPA)P250시제합,검측100례산발적선천성심장기형양본,기중40례산전초성진단위심장기형적태인,60례위선천성심장병환인.결과 심장기형적태인유2례위22q11미결실,선천성심장병환인유1례22q11미결실;3례검측출22q11미결실적환인,2례위3M전형결실,1례위비전형결실.결론 재선천성심장병환인중존재22q11미결실.
    Objective To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.Method MLPA P250 kit was used to detect 22q1 1 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.Result Two cases from the fetuses and 4 case from the patients were found to have 22q11 microdeletion.Conclusion Three cases had 22q11 microdeletion in the congenital heart defects.
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