国际生殖健康/计划生育 ›› 2017, Vol. 36 ›› Issue (5): 404-407.

• 综述 • 上一篇    下一篇

辅助生殖技术与印迹基因失调性疾病相关性的研究进展

贾青鸽,王晓红   

  1. 第四军医大学唐都医院
  • 收稿日期:2017-05-25 修回日期:2017-07-17 出版日期:2017-09-15 发布日期:2017-10-13
  • 通讯作者: 王晓红,E-mail:wangxh-99919@163.com E-mail:wangxh-99919@163.com
  • 基金资助:
    国家自然科学基金(81671463)

Association between Assisted Reproductive Technology and Disorders of Imprinted Genes

JIA Qing-ge, WANG Xiao-hong   

  1. Reproductive Medicine Center, Tangdu Hospital, The Fourth Military Medical University, Xi′an 710038, China
  • Received:2017-05-25 Revised:2017-07-17 Published:2017-09-15 Online:2017-10-13
  • Contact: WANG Xiao-hong, E-mail: wangxh-99919@163.com E-mail:wangxh-99919@163.com

摘要: 辅助生殖技术(ART)是治疗不孕不育症的有效手段,其生殖遗传安全性也一直备受关注。ART子代不良妊娠结局如低出生体质量儿、自然流产、胎儿畸形、早产、围生期死亡等的发生率不断增加,大量研究显示不孕不育患者通过控制性超促排卵、体外受精、胚胎操作等非生理性的干预对表观遗传造成一定的影响;表观遗传修饰中印迹基因对胎儿的发育具有重要的作用,ART实施于表观遗传重编程的关键时期,印迹基因的失调不仅影响胚胎的发育,还可诱发子代出生后的发育异常而导致多种相关性疾病的发生。本文从表观遗传修饰与印迹基因、ART与印迹基因失调性疾病进行综述,概括介绍与ART相关的印迹基因失调性疾病,如Beckwith-Wiedemann综合征、Prader-willi综合征、Angelman综合征、Silver-Russell综合征等的发病率及相关机制。

关键词: 生殖技术, 辅助, 基因组印迹, Beckwith-Wiedemann综合征, DNA甲基化, 序列分析, DNA, 乙酰化作用

Abstract:  Assisted reporductive technology (ART) is an effective treatment of  infertility. However, the safety of reproductive genetics of ART has being concerned. It was reported that the adverse pregnancy outcomes of ART such as low birth weight, spontaneous abortion, fetal malformation, premature delivery, perinatal death were increased. A large number of studies showed that some non-physical interventions on infertility patients, such as the controlling ovarian hyperstimulation, in vitro fertilization and embryo operation, could affect the epigenetics. The imprinting gene play a important role in fetal development during epigenetic modification. ART manipulation is just in the process of epigenetic reprogramming. Therefore, the disorders of imprinting gene will not only impact the fetal development, but also induce developmental abnormalities and many related diseases after birth. This review summarizes the relationship between ART and the disorders of imprinting genes such as Beckwith-Wiedemann syndrome, Prader-Willi syndrome, Angelman syndrome, Silver-Russell syndrome and so on.

Key words: Reproductive techniques, assisted, Genomic imprinting, Beckwith-Wiedemann syndrome, DNA methylation, Sequence analysis, DNA, Acetylation