Amor David J, Halliday Jane
Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia.
Hum Reprod. 2008 Dec;23(12):2826-34. doi: 10.1093/humrep/den310. Epub 2008 Aug 14.
An association between assisted reproduction technologies (ART) and abnormal genomic imprinting in humans has been recognized for several years; however, the magnitude of this risk and the spectrum of imprinting syndromes to which the risk applies remains unknown. Nine human imprinting syndromes have been identified but current evidence links ART with only three: Beckwith-Wiedemann syndrome, Angelman syndrome and the newly described maternal hypomethylation syndrome. There is currently a lack of evidence linking ART with the remaining six imprinting syndromes: Prader-Willi syndrome, Russell-Silver syndrome, maternal and paternal uniparental disomy of chromosome 14, pseudohypoparathyroidism type 1b and transient neonatal diabetes. Evidence from clinical reports suggests that the association between imprinting syndromes and ART may be restricted to syndromes where the imprinting change takes the form of hypomethylation on the maternal allele. In contrast, studies of gametes and early embryos suggest that ART can be associated with hypermethylation as well as hypomethylation, with imprinting changes occurring on paternal as well as maternal alleles. The health effects of ART-associated imprinting changes may also extend beyond the nine recognized imprinting syndromes.
辅助生殖技术（ART）与人类基因组印记异常之间的关联已被认识多年；然而，这种风险的程度以及该风险所适用的印记综合征范围仍然未知。已确定了九种人类印记综合征，但目前的证据仅将ART与其中三种联系起来：贝克威思-维德曼综合征、天使综合征和新描述的母体低甲基化综合征。目前缺乏证据将ART与其余六种印记综合征联系起来：普拉德-威利综合征、罗素-西尔弗综合征、14号染色体母源和父源单亲二体、1b型假性甲状旁腺功能减退症和短暂性新生儿糖尿病。临床报告的证据表明，印记综合征与ART之间的关联可能仅限于印记变化表现为母本等位基因低甲基化形式的综合征。相比之下，对配子和早期胚胎的研究表明，ART可能与高甲基化以及低甲基化有关，印记变化发生在父本和母本等位基因上。ART相关印记变化对健康的影响可能也超出了九种已确认的印记综合征。
