Next Generation Sequencing Detects Premeiotic Errors in Human Oocytes
| Autor: | Harita Ghevaria, Sioban SenGupta, Roy Naja, Rabi Odia, Holly Exeter, Paul Serhal, Xavier Viñals Gonzalez, Xuhui Sun, Joy Delhanty |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Adult
QH301-705.5 Article Catalysis Inorganic Chemistry Young Adult Humans premeiotic aneuploidy meiosis Physical and Theoretical Chemistry Biology (General) Molecular Biology QD1-999 Spectroscopy next generation sequencing human oocytes metaphase II oocyte and first polar body complex Organic Chemistry High-Throughput Nucleotide Sequencing General Medicine Aneuploidy In Vitro Oocyte Maturation Techniques Computer Science Applications Chemistry Oocytes |
| Zdroj: | International Journal of Molecular Sciences, Vol 23, Iss 665, p 665 (2022) International Journal of Molecular Sciences; Volume 23; Issue 2; Pages: 665 International Journal of Molecular Sciences |
| ISSN: | 1661-6596 1422-0067 |
| Popis: | Autosomal aneuploidy is the leading cause of embryonic and foetal death in humans. This arises mainly from errors in meiosis I or II of oogenesis. A largely ignored source of error stems from germinal mosaicism, which leads to premeiotic aneuploidy. Molecular cytogenetic studies employing metaphase fluorescence in situ hybridization and comparative genomic hybridisation suggest that premeiotic aneuploidy may affect 10–20% of oocytes overall. Such studies have been criticised on technical grounds. We report here an independent study carried out on unmanipulated oocytes that have been analysed using next generation sequencing (NGS). This study confirms that the incidence of premeiotic aneuploidy in an unselected series of oocytes exceeds 10%. A total of 140 oocytes donated by 42 women gave conclusive results; of these, 124 (88.5%) were euploid. Sixteen out of 140 (11.4%) provided evidence of premeiotic aneuploidy. Of the 140, 112 oocytes were immature (germinal vesicle or metaphase I), of which 10 were aneuploid (8.93%); the remaining 28 were intact metaphase II - first polar body complexes, and six of these were aneuploid (21.4%). Of the 16 aneuploid cells, half contained simple errors (one or two abnormal chromosomes) and half contained complex errors. We conclude that germinal mosaicism leading to premeiotic aneuploidy is a consistent finding affecting at least 10% of unselected oocytes from women undergoing egg collection for a variety of reasons. The importance of premeiotic aneuploidy lies in the fact that, for individual oocytes, it greatly increases the risk of an aneuploid mature oocyte irrespective of maternal age. As such, this may account for some cases of aneuploid conceptions in very young women. |
| Databáze: | OpenAIRE |
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