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Vol. 64 No. 15: Issue 15

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Studying the C1772T polymorphism of Hif-1α and TGF-β3 IVS5+104 A/G polymorphism in children with congenital non-syndromic neural tube defects and their mothers

https://doi.org/10.14715/cmb/2017.64.15.15
ć°brahim Halil Yildirim
Department of Genetics, Faculty of Veterinary, Dicle University, Diyarbakır, Türkiye
Nadir Koçak
Department of Medical Genetics, Faculty of Medicine, Selçuk University, Konya, Türkiye

Corresponding Author(s) : ć°brahim Halil Yildirim

ihyildirim@gmail.com

Cellular and Molecular Biology, Vol. 64 No. 15: Issue 15

Abstract

Prevalence of neural tube defect (NTD) has reduced after folic acid intake. However; which mechanisms are effective in NTD are not known exactly. In this study; due to the possible effects on hypoxic pathway and embryonic development, particularly on extracellular matrix components, Hif-1α Pro582Ser and TGF-β3 IVS5+104 A/G SfaN1 polymorphisms were studied by PCR-RFLP method both on children with NTDs and mothers. Statistical differences were seen for Hif-1α and TGF-β3 IVS5+104 A/G SfaN1 polymorphisms in children with NTDs but no difference was seen in mothers. Both genes are effective on many pathways and our results suggest that regulation of extracellular matrix components of children during fetal life is important in neural tube defects formation. The results of this study show that Hif-1α Pro582Ser and TGF-β3 IVS5+104 A/G SfaN1 polymorphisms may play a role in NTDs.

Keywords

NTD Hypoxia Hif-1α TGF-β3 SfaN1.
Yildirim, ć°brahim H., & Koçak, N. (2018). Studying the C1772T polymorphism of Hif-1α and TGF-β3 IVS5+104 A/G polymorphism in children with congenital non-syndromic neural tube defects and their mothers. Cellular and Molecular Biology, 64(15), 90–93. https://doi.org/10.14715/cmb/2017.64.15.15
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