Cox Gerald F, Bürger Joachim, Lip Va, Mau Ulrike A, Sperling Karl, Wu Bai-Lin, Horsthemke Bernhard
Children's Hospital, Boston, MA 02115, USA.
Am J Hum Genet. 2002 Jul;71(1):162-4. doi: 10.1086/341096. Epub 2002 May 8.
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.
在生殖细胞和早期胚胎中，哺乳动物基因组会经历广泛的表观遗传重编程。动物研究表明，这一过程易受外部因素影响。我们报告了两名通过胞浆内单精子注射（ICSI）受孕并患有天使综合征的儿童。包括DNA甲基化、微卫星和定量Southern印迹分析在内的分子研究显示，两名患者均存在散发性印记缺陷。我们讨论了ICSI可能干扰卵母细胞或前胚胎中母源印记建立的可能性。
