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基因组印记是指不同亲本来源的一对等位基因之间存在功能上的差异,属于表观遗传修饰的一种。普遍认为与甲基化有关。印记是正常发育必不可少的调控机制,其异常表达必然引起多种相关疾病。而目前研究表明,印记基因失调相关疾病(Beckwith-Wiedemann syndrome)作为辅助生殖技术的副作用,在子代中发病率增高。本研究就辅助生殖技术下的印记基因相关疾病研究进行综述,介绍辅助生殖子代中印记基因相关疾病的发病状况及导致该疾病发生的机理,总结辅助生殖技术对配子印记基因甲基化的影响及临床意义。
Genomic imprinting refers to the functional differences between a pair of alleles derived from different parents and belongs to one of the epigenetic modifications. Generally considered to be related to methylation. Imprinting is an essential regulatory mechanism of normal development, and its abnormal expression is bound to cause a variety of related diseases. However, the current research shows that the Beckwith-Wiedemann syndrome, as a side effect of assisted reproductive technology, has an increased incidence in offspring. In this study, we reviewed the studies on imprinted genes related to assisted reproductive technology, introduced the incidence of imprinting gene-related diseases in assisted reproductive offspring and the mechanism that led to the occurrence of the disease, and summarized the effects of assisted reproductive technology on the methylation of gamete imprinting genes And clinical significance.