基因组印迹与生殖疾病

Genomic Imprinting and Reproductive Diseases

表观遗传修饰中印迹基因对胎儿的发育具有重要的作用,对个体的生长与行为也有深远影响,特别是对胎盘发育极为重要。印迹基因的异常和失调不仅影响胚胎和胎盘发育,还可诱发出生后的发育异常而导致多种疾病发生。大量证据表明,许多肿瘤的发生都与其相应基因组印迹丢失有关。许多研究工作分析了辅助生殖技术和印迹失调之间的联系。对印迹基因和各种表观遗传疾病做文献综述,并对辅助生殖技术所致的遗传风险作简要探讨,以评估这些技术的安全性。

Imprinted genes play important roles in fetal development during epigenetic modification, and have critical significances in individual growth and behavior development, especially placental development. The abnormalities and disorders of imprinted genes will not only impact fetal and placental development, but also induce developmental abnormalities and many diseases after birth. Numerous data showed that the occurrences of many tumors were related with the loss of corresponding genomie imprinting. The relationship between assisted reproductive technology （ART） and imprinting disorders were analyzed by many researchers. This article reviews the imprinted genes and various epigenetic diseases, and evaluates the safety of ART via brief exploration of the possible genetic risks of ART.