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表观遗传学和基因组印迹在辅助生殖技术中的意义。

Implications of epigenetics and genomic imprinting in assisted reproductive technologies.

机构信息

Math/Science Division, Babson College, Babson Park, Massachusetts 02457, USA. :

出版信息

Mol Reprod Dev. 2009 Nov;76(11):1006-18. doi: 10.1002/mrd.21058.

DOI:10.1002/mrd.21058
PMID:19484754
Abstract

There have been several reports of an increased risk of genomic imprinting disorders associated with assisted reproductive technology (ART). However, the connection between imprinting defects and ART is tenuous. In this review, this putative association is investigated in detail, with emphasis on particular steps of the ART process, and which of these may be prone to induction of imprinting errors due to synchrony with major imprinting events during gametogenesis, fertilization, and early embryonic development. While contributions from in vitro manipulation of gametes and embryos cannot be ruled out, it appears that superovulation and/or the condition of infertility, itself, may be largely responsible for the increased risk of genomic imprinting disorders observed with ART births. However, two significant shortcomings of all of these studies preclude rigorous exploration of this issue: the lack of large, longitudinal studies on specific cohorts of ART-conceived children, and questions surrounding the primary generation of expression and epigenetic data from oocytes and embryos. Future directions for study are proposed, along with a preview of what may be in store as the art of ART advances.

摘要

已经有几篇报道称辅助生殖技术(ART)与基因组印迹疾病风险增加有关。然而,印迹缺陷与 ART 之间的联系还很薄弱。在这篇综述中,详细研究了这种假定的关联,重点是 ART 过程的特定步骤,以及这些步骤中哪些可能由于与配子发生、受精和早期胚胎发育过程中的主要印迹事件同步而容易导致印迹错误的诱导。虽然不能排除体外操作配子和胚胎的贡献,但似乎超排卵和/或不孕本身可能是导致 ART 出生时观察到基因组印迹疾病风险增加的主要原因。然而,所有这些研究都存在两个显著的缺陷,使得对这一问题的严格探讨受到阻碍:缺乏对特定 ART 受孕儿童队列的大型纵向研究,以及来自卵母细胞和胚胎的表达和表观遗传数据的主要生成问题。提出了未来的研究方向,并对随着 ART 技术的进步可能会出现的情况进行了预览。

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