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人类辅助生殖临床数据已经显示,辅助生殖技术(ART)与自发流产、早产和围生期死亡、低体质量儿以及一些印迹疾病有关。在配子及胚胎早期发育过程中,基因印迹需经历印迹擦除、重建和维持过程,其中任何一个环节出错都可能导致胚胎发育缺陷,甚至死亡。ART恰施于这一表观遗传重编程的关键时期。因此,这些异常结局可能与ART导致的印迹基因的异常表达有关。而ART中主要的治疗手段有促排卵、体外受精、胞浆内单精子注射(ICSI)和体外培养。这些操作通过干扰基因印迹的重建和维持,影响基因表达和表型,进而影响配子和早期胚胎的发育,从而影响子代的生长发育潜能。
Clinical data on human assisted reproduction have shown that assisted reproductive technology (ART) is associated with spontaneous abortion, premature birth and perinatal mortality, low birth weight children, and some imprinting diseases. During gametogenesis and early embryo development, genetic imprinting needs to undergo imprinting erasure, reconstruction and maintenance processes. Any error in one step may result in embryonic development defects and even death. ART plays a crucial role in this epigenetic reprogramming. Therefore, these abnormal outcomes may be related to the aberrant expression of imprinted genes caused by ART. The main treatment in ART ovulation induction, in vitro fertilization, intracytoplasmic sperm injection (ICSI) and in vitro culture. These manipulations influence the growth and developmental potential of offspring by interfering with the reconstruction and maintenance of gene imprinting, affecting gene expression and phenotype, thereby affecting the development of gametes and early embryos.