School of Molecular Biosciences, Center for Reproductive Biology, Washington State University, Pullman, Washington 99164, USA.
Nat Rev Genet. 2012 Jun 18;13(7):493-504. doi: 10.1038/nrg3245.
Trisomic and monosomic (aneuploid) embryos account for at least 10% of human pregnancies and, for women nearing the end of their reproductive lifespan, the incidence may exceed 50%. The errors that lead to aneuploidy almost always occur in the oocyte but, despite intensive investigation, the underlying molecular basis has remained elusive. Recent studies of humans and model organisms have shed new light on the complexity of meiotic defects, providing evidence that the age-related increase in errors in the human female is not attributable to a single factor but to an interplay between unique features of oogenesis and a host of endogenous and exogenous factors.
三体和单体(非整倍体)胚胎至少占人类妊娠的 10%,对于接近生殖寿命末期的女性,其发生率可能超过 50%。导致非整倍体的错误几乎总是发生在卵母细胞中,但尽管进行了深入研究,其潜在的分子基础仍难以捉摸。最近对人类和模式生物的研究揭示了减数分裂缺陷的复杂性,为人类女性中与年龄相关的错误增加并非归因于单一因素,而是卵母细胞发生和一系列内源性和外源性因素相互作用提供了证据。