Non-meiotic chromosome instability in human immature oocytes

作者：Daina Gemma; Ramos Laia; Rius Mariona; Obradors Albert; del Rey Javier; Giralt Magda; Campillo Mercedes; Velilla Esther; Pujol Aida; Martinez Pasarell Olga; Benet Fordi; Navarro Joaquima^*

来源：European Journal of Human Genetics, 2014, 22(2): 202-207.

DOI：10.1038/ejhg.2013.106

• premeiotic instability
• immature oocytes
• aneuploidy
• segmental imbalances
• germline mitotic abnormalities

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.

• 出版日期2014-2