Identification of allele-specific methylation regions involved in congenital genomic imprinting disorders

最近，辅助生殖技术(ART)已经提供给希望生孩子的不孕夫妇。然而，随着辅助生殖技术的普及，全球范围内关于罕见印记疾病的报告有所增加。在本研究中，为了阐明ART对基因组印迹的影响，并确定ART相关的危险因素(S)，我们分析了BWS和SRS患者22个差异甲基化区域的甲基化状态。我们观察到ART后更广泛的基因组印记的破坏。我们的数据提示，ART相关危险因素(S)是受精后的一个过程，而不是配子形成期。

Recently, assisted reproductive technologies (ART) have become available to infertile couples who wish to have children. However, reports of rare imprinting disorders have been increased around the globe with the popularization of assisted reproductive technologies. In this study, to clarify the influence of ART for genomic imprinting and identify the ART-related risk factor(s), we analyzed the DNA methylation status of 22 differentially methylated regions in BWS and SRS patients. We observed a more widespread disruption of genomic imprints after ART. Our data suggest that ART-related risk factor(s) was a process after the fertilization than the gamete formative period.