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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| http://dx.doi.org/10.1080/14767058.2016.1262343 | DOI Listing |
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