摘要
目的 对1例主要表现为先天性心脏病的患儿进行遗传学分析.方法 对患儿进行临床检查,再以染色体微阵列分析技术检测全基因组拷贝数变异,qPCR验证结果及父母来源.结果 患儿主要临床表型为先天性心脏病(室间隔缺损、重度肺动脉高压、三尖瓣反流、动脉导管未闭和卵圆孔未闭)、重症肺炎及肝功能损害.染色体微阵列分析及qPCR检测显示患儿chr13q34区域发生3.2 Mb片段缺失,内含25个基因,为新生变异;chr19p13.3区域发生遗传自父亲的2.2 Mb片段重复.结论 chr13q34区域可能存在先天性心脏病的致病易感基因.
Objective To explore the genetic basis of a child with congenital heart disease(CHD).Methods Clinical examination of the child was carried out.Chromosomal microarray analysis(CMA)and quantitative PCR were carried out to detect copy number variations.Results The major features of the child included CHD(ventricular septal defect,severe pulmonary hypertension,tricuspid regurgitation,patent ductus arteriosus,and patent foramen ovale),severe pneumonia and liver failure.A de novo 3.2 Mb deletion encompassing 25 genes in 13q34 and a paternal 2.2 Mb duplication in 19p13.3 were revealed by CMA and qPCR.Conclusion The 13q34 region probably contains susceptibility genes for CHD.
作者
沈男
郭锐
于菡
高鑫
庞焕平
刘毅
盖中涛
Shen Nan;Guo Rui;Yu Han;Gao Xin;Pang Huanping;Liu Yi;Gai Zhongtao(School of Medicine and Life Sciences,University of J inan—Shandong Academy of Medical Scienc es,Jinan,Shandong 250022,China;Pediatric Research Institute,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China;Department of Cardiovascular Disease,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China;Department of Medical Imaging,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China;Department of,Ultrasonography,Qilu Children’S Hospital of Shandong University,Jinan,Shandong 250022,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第6期620-623,共4页
Chinese Journal of Medical Genetics
基金
山东省科技计划项目(2013GSF11829)
济南市科技计划项目(201302045).
作者简介
通信作者:刘毅,Email:liuyi—ly@126.com;通信作者:盖中涛,Email:gaizhongtao@sina.com
