下一代测序技术在胚胎植入前遗传学检测中的应用  

Application of the next generation sequencing technology in preimplantation genetic detection

作　　者：谢美娟 杨学习 李明 

机构地区：[1]南方医科大学检验与生物技术学院,广东广州510515

出　　处：《分子诊断与治疗杂志》2017年第5期353-357,共5页Journal of Molecular Diagnostics and Therapy

基　　金：国家自然科学基金(81302327);广州市重大科技攻关项目子课题(2014Y2-00220)

摘　　要：以下一代测序技术(next-generation sequencing,NGS)为代表的基因组学技术的迅猛发展给全面深度的染色体筛查和基因诊断提供了机会。NGS也迅速应用于胚胎植入前遗传学诊断(preimplantation genetic diagnosis,PGD)和胚胎植入前遗传学筛查(preimplantation genetic screening,PGS)临床检测中,成为常规检测技术,经济与可靠使其具有更广阔的应用前景。单细胞全基因组扩增(whole genome amplification,WGA)技术的进步使得NGS在PGD和PGS的临床应用中能够更加全面了解植入前胚胎的遗传学信息,可以检测到更加细微的差异;基于NGS技术的PGS和PGD将给移植成功率和试管婴儿(in-vitro fertilization,IVF)出生率带来明显提升。本文主要介绍PGD/PGS的定义、传统的PGD/PGS检测技术,单细胞全基因组扩增技术以及NGS在PGD/PGS中的应用。With the rapid development of genomics technology, next-generation sequencing（NGS）offered an opportunity for comprehensive chromosome screening and gene diagnosis. NGS can also be applied to preimplantation genetic diagnosis（PGD） and preimplantation genetic screening（PGS） and becomes a routine clinical detection technology. In addition, the economy and reliability of NGS makes it have a wider application prospects. The progress of whole genome amplification（WGA） of single cell leads to the clinical use of NGS in PGD and PGS more comprehensive to learn the genetic information of preimplantation embryos. The comprehensive chromosome screening and gene diagnosis for embryonic genome will improve the success rate of embryo transplantation and raise the birth rate, which makes NGS more and more irresistible in PGD and PGS. In this review, the PGD/PGS definition, technology of whole genome amplification and the application of NGS in PGD/PGS will be discussed.

关 键 词：胚胎植入前诊断 胚胎植入前筛查 下一代测序 

分 类 号：R714.8[医药卫生—妇产科学]