Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)476-478
Number of pages3
JournalHuman Cell
Volume33
Issue number3
DOIs
Publication statusPublished - Jul 1 2020

Keywords

  • Down syndrome
  • Intellectual disability
  • MDM2-410T-G polymorphism
  • Pyrosequencing
  • Risk factor

ASJC Scopus subject areas

  • Cell Biology
  • Cancer Research

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