Pellestor F, Andréo B, Anahory T, Déchaud H, Hédon B, Hamamah S
Institut de génétique humaine, CNRS UPR 1142, 141, rue de la Cardonille, 34396 Montpellier cedex 05, France.
Gynecol Obstet Fertil. 2005 May;33(5):283-92. doi: 10.1016/j.gyobfe.2005.04.003.
Chromosomal abnormalities account for the majority of pre- and post- implantation embryo wastage in humans. Most of these abnormalities result from maternal meiotic errors, which preferentially occur during the first meiotic division. Consequently, the cytogenetic analysis of human oocytes has then been considered as a highly valuable source of data for the investigation of both the occurrence and the origin of chromosomal abnormalities in human. During the last 4 decades, the cytogenetic analysis of human oocytes has never stopped progressing, according to the advents of new technologies. Both karyotyping and molecular cytogenetic studies have been reported to date, providing a large body of data on the incidence and the distribution of chromosomal abnormalities in human female gametes. However, these studies display a great variability in results, which may be essentially attributable to the limitations of these techniques when applied to human oocytes. The most relevant analysis have led to the estimate that 15-20% of human oocytes present chromosome abnormalities, and they have emphasized the implication of both whole chromosome non-disjunction and chromatid separation in the occurrence of aneuploidy in human oocytes. The effect of advanced maternal age on the incidence of aneuploidy in human oocytes has also been clearly evidenced by recent reports based on large sample of oocytes or polar bodies.
染色体异常是人类植入前和植入后胚胎丢失的主要原因。这些异常大多源于母本减数分裂错误，且优先发生在第一次减数分裂期间。因此，人类卵母细胞的细胞遗传学分析被视为研究人类染色体异常的发生及起源的极有价值的数据来源。在过去40年里，随着新技术的出现，人类卵母细胞的细胞遗传学分析一直在不断发展。迄今为止，核型分析和分子细胞遗传学研究均有报道，为人类雌配子中染色体异常的发生率和分布提供了大量数据。然而，这些研究结果差异很大，这可能主要归因于这些技术应用于人类卵母细胞时的局限性。最相关的分析估计，15%至20%的人类卵母细胞存在染色体异常，并且强调了全染色体不分离和染色单体分离在人类卵母细胞非整倍体发生中的作用。近期基于大量卵母细胞或极体样本的报告也清楚地证明了高龄产妇对人类卵母细胞非整倍体发生率的影响。
