国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2013, Vol. 32 ›› Issue (6): 415-418.

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基因组学在预防出生缺陷中的应用


曹建军, 方 锴, 杨焕明   

  1. 201213 上海华大基因科技有限公司（曹建军，方 锴）；深圳华大基因研究院（杨焕明）
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2013-11-15 发布日期:2013-11-15
  • 通讯作者: 杨焕明

Application of Genomic Technologies in the Prevention of Birth Defects

CAO Jian-jun，FANG Kai，YANG Huan-ming   

  1. BGI-Shanghai, Shanghai 201213, China（CAO Jian-jun，FANG Kai）；BGI-Shenzhen，Shenzhen 518083，China（YANG Huan-ming）
  • Received:1900-01-01 Revised:1900-01-01 Published:2013-11-15 Online:2013-11-15
  • Contact: YANG Huan-ming

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摘要： 中国是出生缺陷的高发国，出生缺陷总发生率约为5.6%，出生缺陷在全国婴儿死因中的构成比顺位由2000年的第4位上升至2011年的第2位，达到19.1%。遗传因素是出生缺陷发生的一个重要原因，随着基因组学的研究进展以及基因检测平台的高速发展，使得基因检测在常见的染色体异常、新生儿代谢性疾病及单基因病等出生缺陷预防中的应用越来越广泛。以出生缺陷的三级预防体系为基础，探讨基因组学在其体系中的应用对完善中国出生缺陷的预防工作是非常重要的。

关键词: 出生缺陷, 先天畸形, 基因组学, 序列分析, 综合预防, 新一代测序技术

Abstract: China is a country suffering from high rate, 5.6%, of birth defects. Birth defects as one of the most commom causes of infant death, has risen to the second cause of infant death in 2011 from the fourth in 2000. In 2011, 19.1% infant deaths were from birth defects. Genetic factor is one of the most important factors of birth defects. With the rapid development of genomics research and genetic testing platform, the genetic testing has been more widely used in the prevention of birth defects. In this paper, we discuss the application of genomic technologies, as well as its importance, in the prevention of birth defects as for the three levels′ system of birth defects prevention.

Key words: Birth defects, Congenital abnormalities, Genomics, Sequence analysis, Universal precautions