Acta Metallurgica Sinica

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Application of next-generation sequencing in preimplantation genetic diagnosis.

XIE Ping-yuan,HU Liang,LIN Ge.   

  1. Reproductive & Genetic Hospital of Citic-Xiangya;Institute of Reproductive & Stem Cell Engineering,Basic Medicine College,Central South University,Key Laboratory of Reproductive and Stem Cell Engineering,Ministry of Health,Changsha 410078,China
  • Online:2016-03-02 Published:2016-05-03

二代测序技术在植入前遗传学诊断中的应用

谢平原胡亮林戈   

  1. 作者单位:中信湘雅生殖与遗传专科医院 中南大学基础医学院生殖与干细胞工程研究所 卫计委生殖与干细胞工程重点实验室,湖南 长沙 410078

Abstract:

Abstract:The next-generation sequencing technology applied to preimplantation genetic diagnosis and screening is developing rapidly,which not only can perform extensive comprehensive chromosome screening/diagnosis,but also can analyze the single-gene disorders.This article reviews the application of the next-generation sequencing technology in the preimplantation genetic diagnosis of chromosomal disorders and single-gene disorders, and preimplantation genetic screening.

Key words: next generation sequencing, PGD, PGS;chromosomal disorders, single-gene disorders

摘要:

二代测序技术在植入前遗传学诊断、筛查中的应用正在迅速发展,其不仅能进行胚胎染色体的全面筛查和诊断,还能检测单基因病。文章就二代测序技术在染色体病、单基因病的植入前

关键词: 二代测序技术, 植入前遗传学诊断, 植入前遗传学筛查, 染色体病, 单基因病

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