Intracytoplasmic sperm injection may increase the risk of imprinting defects
Intracytoplasmic sperm injection may increase the risk of imprinting defects
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DOI：
10.1086/341096
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发表时间：
2002-07-01
影响因子：
9.8
通讯作者：
Horsthemke, B
中科院分区：
文献类型：
--
作者：
Cox, GF;Bürger, J;Horsthemke, B
在生殖细胞和早期胚胎中，哺乳动物基因组经历广泛的表观遗传重编程。动物研究表明，这一过程容易受到外部因素的影响。我们报告两个孩子谁是怀孕的卵胞浆内单精子注射（ICSI）和谁开发Angelman综合征。分子研究，包括DNA甲基化、微卫星和定量Southern印迹分析，显示两名患者均存在零星印记缺陷。我们讨论了ICSI可能干扰卵母细胞或前胚胎中母体印记的建立的可能性。
In germ cells and the early embryo, the mammalian genome undergoes widespread epigenetic reprogramming. Animal studies suggest that this process is vulnerable to external factors. We report two children who were conceived by intracytoplasmic sperm injection (ICSI) and who developed Angelman syndrome. Molecular studies, including DNA methylation and microsatellite and quantitative Southern blot analysis, revealed a sporadic imprinting defect in both patients. We discuss the possibility that ICSI may interfere with the establishment of the maternal imprint in the oocyte or pre-embryo.