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Study of the MDM2 -410T-G Polymorphism (rs2279744) by Pyrosequencing in Mothers of Down Syndrome Subjects

Overview
Journal Hum Cell
Publisher Springer
Specialty Cell Biology
Date 2020 May 20
PMID 32424731
Citations 2
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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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