A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers. (17th November 2017)

• Record Type: Journal Article
• Authors: Salemi, Michele; Barone, Concetta; Salluzzo, Maria Grazia; Giambirtone, Mariaconcetta; Scillato, Francesco; Galati Rando, Rosanna; Romano, Carmelo; Morale, Maria Concetta; Ridolfo, Federico; Romano, Corrado
• Is Part Of: Journal of maternal-fetal & neonatal medicine. Volume 30:Number 22(2017)
• Page Start: 2752
• Page End: 2754
• Publication Date: 2017-11-17
• Subjects: Mothers of Down Syndrome -- Down Syndrome -- Trisomy 21 -- TP53 c.215G > C polymorphism -- pyrosequencing; Obstetrics -- Periodicals; Perinatology -- Periodicals; Infants (Newborn) -- Diseases -- Periodicals; Neonatology -- Periodicals; 618.2
• DOI: 10.1080/14767058.2016.1262343
• Languages: English
• ISSNs: 1476-7058

Abstract

Abstract: Objective: Trisomy 21 is the most frequent genetic cause of intellectual disability. Tumor Protein 53 ( TP53 ) gene down-regulation triggers chromosomal instability. A TP53 gene polymorphism c.215G > C (rs1042522) is associated with accumulation of aneuploid cells. We analyzed the TP53 c.215G > C (rs1042522) polymorphism in Sicilian mothers of subjects with Down Syndrome (DS) within a case-control study. Methods: Nucleotide polymorphism was detected by pyrosequencing technology. Results: The distribution of TP53 c.215G > C polymorphism showed significant difference between mothers of subjects with DS and controls. Conclusions: Our data show that TP53 c.215G > C polymorphism is a risk factor for DS in Sicilian mothers.