journal1 ›› 2017, Vol. 25 ›› Issue (11): 1134-1137.DOI: 10.11852/zgetbjzz2017-25-11-15

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

LI Jing1,WANG Yan-xia1,MAO Bao-hong1,PEI Jian-ying1,LIN Xiao-juan2   

  1. 1 Maternal and Child Health Research Center;
    2 Prenatal Diagnosis Center, Gansu Provincial Maternity and Child-care Hospital,Lanzhou,Gansu 730050,China
  • Received:2017-02-19 Online:2017-11-10 Published:2017-11-10
  • Contact: LIN Xiao-juan,



  1. 甘肃省妇幼保健院 1 妇幼保健科研中心; 2 产前诊断中心,甘肃 兰州 730050
  • 通讯作者: 林晓娟,
  • 作者简介:李静(1983-),女,主治医师,硕士学位,主要研究方向为遗传诊断与咨询。
  • 基金资助:

Abstract: Congenital heart defects (CHDs) are the most common birth defects in China,whose underlying etiologies of disease 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 certainty.So the research progress of the relationship between CNVs and simple CHDs were summarized in this paper.

Key words: congenital heart defects, gene copy number variations, gene diagnosis

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。

关键词: 先天性心脏病, 基因拷贝数变异, 基因诊断

CLC Number: