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.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
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
关键词
先天性心脏病
22Q11微缺失
MLPA
Congenital heart disease
22ql 1 microdeletion
Multiplex ligation dependent probe amplification
