Abstract
Trisomy 21 or Down syndrome (DS) is the most frequent genetic etiology of intellectual disability in humans. MDM2 gene expression has a potential role as a risk factor for human aneuploidy. -410T-G (rs2279744) functional polymorphism in MDM2 gene impacts on the mechanisms of chromosomal non-disjunction. We analyzed, within a case–control study, such polymorphism in mothers of subjects with DS. Nucleotide polymorphism was detected by pyrosequencing technology. The distribution of MDM2-410T-G polymorphism showed no significant difference among mothers of subjects with DS and controls. Our results suggest that MDM2 -410T-G polymorphism is not a risk factor for DS in mothers.
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This study was approved by the Ethical Committee of the Research Institute-IRCCS Associazione Oasi Maria SS., Troina (EN), Italy. The Ethical Committee approved the project on June 17, 2013 (Prot. N. CE2013/06/17). All the study participants or their parents signed an informed consent to publish.
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Salemi, M., Salluzzo, M.G., Barone, C. et al. Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects. Human Cell 33, 476–478 (2020). https://doi.org/10.1007/s13577-020-00374-2
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DOI: https://doi.org/10.1007/s13577-020-00374-2