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Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers
Michele Salemi1, Concetta Barone1, Maria Grazia Salluzzo1
1a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.
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.
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