高通量测序技术在胚胎植入前诊断中的应用  

Application of Next-Generation Sequencing Technology in Preimplantation Genetic Diagnosis

作　　者：邱碧原 杨季云 QIU Biyuan;YANG Jiyun(Medical Technology College,Chengdu University of Traditional Chinese Medicine,Chengdu 610075,China;Department of Clinical Laboratory,Zigong Women′s and Children′s Hospital,Zigong 643000,China;School of Medicine,University of Electronic Science and Technology,Chengdu 610054,China;a.Sichuan Provincial Key Laboratory for Human Disease Gene Study,4b.Prenatal Diagnosis Center,Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People′s Hospital,Chengdu 610072,China)

机构地区：[1]成都中医药大学医学技术学院,成都610075 [2]自贡市妇幼保健院检验科,四川自贡643000 [3]电子科技大学医学院,成都610054 [4]电子科技大学附属医院.四川省人民医院人类疾病基因研究重点实验室,成都610072 [5]电子科技大学附属医院.四川省人民医院产前诊断中心,成都610072

出　　处：《医学综述》2018年第12期2318-2322,2327,共6页Medical Recapitulate

摘　　要：随着辅助生殖技术的迅速发展,胚胎植入前诊断的方法也更加快速、准确。随着全基因组扩增技术的完善、胚胎玻璃化冷冻技术的成熟,高通量测序技术开始应用于胚胎植入前诊断,并凭借着通量大、速度快、准确度高、价格经济等优势得到越来越多的关注和研究。现在不仅能对胚胎的全基因组染色体异常进行筛查,还能对单基因病进行诊断,选择植入健康的胚胎。胚胎活检技术和高通量测序技术正在不断的发展和进步,未来可能在不损伤胚胎的情况下就能对胚胎的遗传情况进行准确的检测。Assisted reproductive technology has developed rapidly,and the methods of preimplantation genetic diagnosis have also become more rapid and accurate. With the improvement of whole-genome amplification technology and embryo vitrification,the next-generation sequencing technology has been applied to the preimplantation genetic diagnosis. And it has become a hotspot with the advantages of high throughput,high speed,high accuracy and economical cost. Whole genome chromosomal abnormalities and single-gene disorders can be identified to choose healthy embryos before implantation now. It is possible to detect the embryo＇s genetic condition without damaging the embryo in the future.

关 键 词：胚胎植入前诊断 高通量测序 全基因组扩增 染色体异常 单基因病 

分 类 号：R715.5[医药卫生—妇产科学]