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

• Published in: Human cell : official journal of Human Cell Research Society Vol. 33; no. 3; pp. 476 - 478
• Main Authors: Salemi, Michele, Salluzzo, Maria Grazia, Barone, Concetta, Romano, Corrado
• Format: Journal Article
• Language: English
• Published: Singapore Springer Singapore 01.07.2020; Springer Nature B.V
• Subjects: Aneuploidy; Biomedical and Life Sciences; Case-Control Studies; Cell Biology; Disjunction; Down syndrome; Down Syndrome - genetics; Down's syndrome; Etiology; Female; Gene expression; Gene polymorphism; Gynecology; High-Throughput Nucleotide Sequencing - methods; Humans; Intellectual disabilities; Life Sciences; MDM2 protein; Mothers; Negative Results; Oncology; Polymorphism; Polymorphism, Single Nucleotide - genetics; Proto-Oncogene Proteins c-mdm2 - genetics; Rapid Communication; Reproductive Medicine; Risk Factors; Stem Cells; Surgery; Trisomy; Intellectual disability; Down syndrome; 410T-G polymorphism; Risk factor; Pyrosequencing; MDM2-410T-G polymorphism
• ISSN: 1749-0774; 0914-7470; 1749-0774
• DOI: 10.1007/s13577-020-00374-2

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.