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Взаимосвязь между индексом метилирования промоторов генов и трисомией 16 у спонтанных абортусов Е. С. Сердюкова, О. Ю. Васильева, Д. И. Жигалина

By: Сердюкова, Екатерина СергеевнаContributor(s): Васильева, Оксана Юрьевна | Жигалина, Дарья ИвановнаMaterial type: ArticleArticleContent type: Текст Media type: электронный Other title: Correlation between methylation index of genes and trisomy 16 in miscarriages [Parallel title]Subject(s): метилирование | спонтанные абортусы | трисомия по 16 хромосоме | экспериментальные исследованияGenre/Form: статьи в сборниках Online resources: Click here to access online In: Перспективы развития фундаментальных наук. Т. 4 : сборник научных трудов XVII Международной конференции студентов, аспирантов и молодых ученых, Россия, Томск, 21-24 апреля 2020 г Т. 4 : Биология и фундаментальная медицина. С. 76-78Abstract: In this study, the targeted bisulfite massive parallel sequencing was used to study the level of gene methylation (ANKRD53, GATA3, CALCB, TRPV6, SLC13A4) in miscarriages. Using bioinformatics approaches, we found a statistically significant increase in methylation in the promoter regions of analyzed genes. A relationship was observed between the level of methylation of the ANKRD53 gene, which is responsible for chromosome segregation in mitotic division and the fraction of cells with a trisomy karyotype of miscarriages with aneuploidy. Also, in this sample, aberrant methylation of the regulatory region of the transcription factor GATA3 was noted, which is the main component for the timely differentiation of cytotrophoblast cells in the prenatal period. The promoters of the remaining genes (CALCB, TRPV6 and SLC13A4) were also hypermethylated, which may affect the outcome of embryo development in the early stages ofpregnancy.
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In this study, the targeted bisulfite massive parallel sequencing was used to study the level of gene methylation (ANKRD53, GATA3, CALCB, TRPV6, SLC13A4) in miscarriages. Using bioinformatics approaches, we found a statistically significant increase in methylation in the promoter regions of analyzed genes. A relationship was observed between the level of methylation of the ANKRD53 gene, which is responsible for chromosome segregation in mitotic division and the fraction of cells with a trisomy karyotype of miscarriages with aneuploidy. Also, in this sample, aberrant methylation of the regulatory region of the transcription factor GATA3 was noted, which is the main component for the timely differentiation of cytotrophoblast cells in the prenatal period. The promoters of the remaining genes (CALCB, TRPV6 and SLC13A4) were also hypermethylated, which may affect the outcome of embryo development in the early stages ofpregnancy.

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