辅助生殖技术对印记基因失调疾病及表观遗传影响的研究进展

Effect of assisted reproduction technology on imprinted genetic disorders and epigenetic parameters in human gametes: a review on research progress

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 is a phenomenon that results in differential expression from an allele of parents in a filial generation, in which the DNA hypomethylation is involved. It plays an important role in the growth and development of mammals. The disordered expression of imprinted genes would result in the related diseases. It is reported that the incidence of disordered imprinted genes-related diseases, e.g. Beckwith - Wiedemann syndrome （BWS）, are increased in the offspring, as an adverse effect of assisted reproductive technology （ART）. This paper reviews the diseases involved in the imprinted genes as the outcomes of ART and the related mechanism, particularly the roles of DNA hypomethylation of imprinted genes in human gametes.