Kuliev A, Cieslak J, Verlinsky Y
Reproductive Genetics Institute, Chicago, IL 60614, USA.
Cytogenet Genome Res. 2005;111(3-4):193-8. doi: 10.1159/000086889.
It was previously shown that more than half of the human oocytes obtained from IVF patients of advanced reproductive age are aneuploid, due to meiosis I and meiosis II errors. The present paper further confirms that 61.8% of the oocytes tested by fluorescent probes specific for chromosomes 13, 16, 18, 21 and 22 are abnormal, representing predominantly chromatid errors, which are the major source of aneuploidy in the resulting embryos. Almost half of the oocytes with meiosis I errors (49.3%) are prone to sequential meiosis II errors, which may lead to aneuploidy rescue in 30.8% of the cases. Half of the detected aneuploidies (49.8%) are of complex nature with involvement of two or more chromosomes, or the same chromosome in both meiotic divisions. The aneuploidy rates for individual chromosomes are different, with a higher prevalence of chromosome 21 and 22 errors. The origin of aneuploidy for the individual chromosomes is also not random, with chromosome 16 and 22 errors originating more frequently in meiosis II, and chromosome 18, 13 and 21 errors in meiosis I. There is an age dependence not only for the overall frequency of aneuploidies, but also for each chromosome error, aneuploidies originating from meiosis I, meiosis II, and both meiosis I and meiosis II errors, as well as for different types of aneuploidies. The data further suggest the practical relevance of oocyte aneuploidy testing for detection and avoidance from transfer of the embryos deriving from aneuploid oocytes, which should contribute significantly to the pregnancy outcomes of IVF patients of advanced reproduction age.
先前的研究表明,从高龄生育的体外受精(IVF)患者获取的人类卵母细胞中,超过半数因减数分裂I和减数分裂II错误而出现非整倍体。本文进一步证实,用针对13、16、18、21和22号染色体的荧光探针检测的卵母细胞中,61.8%是异常的,主要表现为染色单体错误,这是所产生胚胎中非整倍体的主要来源。几乎一半存在减数分裂I错误的卵母细胞(49.3%)容易出现后续的减数分裂II错误,这可能在30.8%的情况下导致非整倍体挽救。检测到的非整倍体中有一半(49.8%)具有复杂性质,涉及两个或更多染色体,或在两个减数分裂过程中涉及同一染色体。各染色体的非整倍体率不同,21号和22号染色体错误的发生率较高。各染色体非整倍体的起源也不是随机的,16号和22号染色体错误在减数分裂II中更频繁出现,而18号、13号和21号染色体错误在减数分裂I中更常见。不仅非整倍体的总体频率存在年龄依赖性,而且每个染色体错误、源自减数分裂I、减数分裂II以及减数分裂I和减数分裂II两者错误的非整倍体,以及不同类型的非整倍体都存在年龄依赖性。这些数据进一步表明卵母细胞非整倍体检测对于检测和避免移植源自非整倍体卵母细胞的胚胎具有实际意义,这应该会对高龄生育的IVF患者的妊娠结局有显著贡献。