基因组拷贝数变异在单纯性先天性心脏病中的研究进展  

Research progress on gene copy number variations in the simple congenital heart defects

作　　者：李静[1] 王燕侠[1] 毛宝宏[1] 裴建赢 林晓娟[2] LI Jing WANG Yan-xia MAO Bao-hong PEI Jian ying LIN Xiao-juan(Maternal and Child Health Research Center Prenatal Diagnosis Center, Gansu Provincial Maternity and Child-care Hospital ,Lanzhou, Gansu 730050, China)

机构地区：[1]甘肃省妇幼保健院妇幼保健科研中心,甘肃兰州730050 [2]甘肃省妇幼保健院产前诊断中心,甘肃兰州730050

出　　处：《中国儿童保健杂志》2017年第11期1134-1137,共4页Chinese Journal of Child Health Care

基　　金：甘肃省科学技术厅自然科学基金(1606RJZA171)

摘　　要：先天性心脏病(CHDs)是我国最常见的一种出生缺陷,其潜在的病因至今未明。近年来,一些科学研究和临床诊断试验表明基因拷贝数变异(CNVs)已成为先天性遗传性疾病的一个重要因素,例如该病因在单纯性先心病中约占3%~10%。然而,拷贝数变异在单纯性CHDs形成中的遗传机制尚不明确。因此本文就CNVs与单纯性CHDs关系的研究进展作一综述。Congenital heart defeets （CHDs） are the most common birth defects in China, whose underlying etiologies of dis- ease remain unknow. More recently, research investigations and clinical diagnostic testing indicated that copy number variations （CNVs） have emerged as an important contributor to congenital genetic disorders,which accounts for approximately 3%-10% in simple CHDs. However,the full impact of copy number variations （CNVs） as a genetic mechanism in CHDs is not known with cer- tainty. ,So the research progress of the relationship between CNVs and simple CHDs were summarized in this paper.

关 键 词：先天性心脏病 基因拷贝数变异 基因诊断 

分 类 号：R179[医药卫生—妇幼卫生保健]