Abstract
Aneuploidy has been a major issue in human gametes and is closely related to fertility problems, as it is known to be present in cleavage stage embryos and gestational losses. Pre-meiotic chromosome abnormalities in women have been previously described. The aim of this study is to assess the whole-chromosome complement in immature oocytes to find those abnormalities caused by mitotic instability. For this purpose, a total of 157 oocytes at the germinal vesicle or metaphase I stage, and discarded from IVF cycles, were analysed by CGH. Fifty-six women, between 18 and 45 years old (mean 32.5 years), including 32 IVF patients (25–45 years of age) and 24 IVF oocyte donors (18–33 years of age), were included in the study. A total of 25/157 (15.9%) of the oocytes analysed, obtained from three IVF clinics, contained chromosome abnormalities, including both aneuploidy (24/157) and structural aberrations (9/157). Independently of the maternal age, the incidence of abnormal oocytes which originated before meiosis is 15.9%, and these imbalances were found in 33.9% of the females studied. This work sheds light on the relevance of mitotic instability responsible for the generation of the abnormalities present in human oocytes.
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Acknowledgements
This study was funded by grants from the Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (PI 08/0012, PI 11/00625), Grup de Suport a la Recerca of the Generalitat de Catalunya (2009SGR1107) and Càtedra de Recerca Eugin-UAB. The first author had a pre-doctoral grant from Fundació Crèdit Andorrà (2008–2011).
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Daina, G., Ramos, L., Rius, M. et al. Non-meiotic chromosome instability in human immature oocytes. Eur J Hum Genet 22, 202–207 (2014). https://doi.org/10.1038/ejhg.2013.106
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DOI: https://doi.org/10.1038/ejhg.2013.106
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