Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome

@article{Marucci2011PolymorphismCO,
  title={Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome},
  author={Gustavo Henrique Marucci and Bruna Lancia Zampieri and Joice Matos Biselli and Sendi Valentin and Eny Maria Goloni Bertollo and Marcos Nogueira Eberlin and Renato Haddad and Maria Francesca Riccio and H{\'e}lio Vannucchi and Valdemir Melechco Carvalho and {\'E}rika Cristina Pavarino},
  journal={Molecular Biology Reports},
  year={2011},
  volume={39},
  pages={2561-2566}
}
Recent researches have investigated the factors that determine the maternal risk for Down syndrome (DS) in young woman. In this context, some studies have demonstrated the association between polymorphisms in genes involved on folate metabolism and the maternal risk for DS. These polymorphisms may result in abnormal folate metabolism and methyl deficiency, which is associated with aberrant chromosome segregation leading to trisomy 21. In this study, we analyzed the influence of the polymorphism… CONTINUE READING

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