先天性心脏病遗传病因及检测方法研究进展  

Progress of genetic etiology and detection method in congenital heart disease

作　　者：阚惠娟(综述)[1] 严文华[1] 陈瑛(审校)[2] 

机构地区：[1]苏州大学附属苏州儿童医院心内科,215005 [2]南京医科大学附属苏州市立医院,215003

出　　处：《国际儿科学杂志》2011年第2期188-191,共4页International Journal of Pediatrics

摘　　要：先天性心脏病的病因主要有遗传因素、环境因素和母亲因素。其遗传因素包括染色体异常、单基因缺陷和多基因缺陷。先天性心脏病遗传学检测方法近年有了飞速发展，包括染色体核型分析、荧光原位杂交、荧光定量PCR、多重连接依赖探针扩增等。The etiology of congenital heart disease （CHD）incluses genetic factors, environmental factors and maternal factors. The genetic etiology of CHD includes chromosomal abnormalities, single gene defects and multiple genetic defects. The genetic testing method of CHD has made great progress in karyotype analysis, fluorescence in situ hybridization, quantitative PCR, multiplex ligation dependent probe amplification, et at.

关 键 词：先天性心脏病 基因 PCR 比较基因组杂交 

分 类 号：R541.1[医药卫生—心血管疾病]