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  

Clinical detection of 22qll microdeletion in the patients with congenital heart disease by multiplex ligation dependent probe amplification

作　　者：陈瑛[1] 阚惠娟[2] 毛君[1] 丁洁[1] 孟庆霞[1] 李海波[1] 程洪波[1] 刘敏娟[1] 孙颖[2] 严文华[2] 李红[1] 

机构地区：[1]南京医科大学附属苏州医院生殖与遗传中心,215002 [2]苏州大学附属儿童医院心内科

出　　处：《中华儿科杂志》2011年第4期316-320,共5页Chinese Journal of Pediatrics

基　　金：江苏省自然科学基金（BK2008179）;苏州市科技局项目（SZD0891）;苏州市高层次人才项目

摘　　要：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。Objective To detect 22qll microdeletion in the children and fetuses affected by congenital heart defects. Method MLPA P250 kit was used to detect 22ql 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 1 case from the patients were found to have 22ql 1 microdeletion. Conclusion Three cases had 22ql 1 microdeletion in the congenital heart defects.

关 键 词：先天性心脏病 22Q11微缺失 MLPA 

分 类 号：R725.4[医药卫生—儿科]