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人类卵母细胞染色体分析:复杂病例与主要陷阱

Human oocyte chromosome analysis: complicated cases and major pitfalls.

作者信息

Rosenbusch Bernd, Schneider Michael, Michelmann Hans Wilhelm

机构信息

Department of Gynecology and Obstetrics, University of Ulm, Prittwitzstrasse 43, 89075 Ulm, Germany.

出版信息

J Genet. 2008 Aug;87(2):147-53. doi: 10.1007/s12041-008-0022-6.

Abstract

Human oocytes that remained unfertilized in programmes of assisted reproduction have been analysed cytogenetically for more than 20 years to assess the incidence of aneuploidy in female gametes. However, the results obtained so far are not indisputable as a consequence of difficulties in evaluating oocyte chromosome preparations. Because of the lack of guidelines, we decided to summarize for the first time, the possible pitfalls in human oocyte chromosome analysis. Therefore, we screened the material from our previous studies and compiled representative, complicated cases with recommendations for their cytogenetic classification. We point out that maturity and size of the oocyte are important parameters and that fixation artefacts, as well as the particular structure of oocyte chromosomes, may predispose one to misinterpretations. Moreover, phenomena related to oocyte activation and fertilization are illustrated and explained. This compilation may help to avoid major problems in future studies and contribute to a more precise, and uniform assessment of human oocyte chromosomes.

摘要

在辅助生殖项目中未受精的人类卵母细胞已进行了20多年的细胞遗传学分析,以评估女性配子中非整倍体的发生率。然而,由于评估卵母细胞染色体标本存在困难,目前所获得的结果并非无可争议。由于缺乏指导方针,我们首次决定总结人类卵母细胞染色体分析中可能存在的陷阱。因此,我们筛选了我们之前研究中的材料,汇编了具有代表性的复杂病例,并给出了细胞遗传学分类的建议。我们指出,卵母细胞的成熟度和大小是重要参数,固定假象以及卵母细胞染色体的特殊结构可能会导致误判。此外,还对与卵母细胞激活和受精相关的现象进行了说明和解释。这一汇编可能有助于避免未来研究中的重大问题,并有助于对人类卵母细胞染色体进行更精确、统一的评估。

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