Yavari, M., Zakeri, S., Pishkar, L., Mazaheri, M. (2020). The Association between Polymorphism-119G>A of the Alpha-Fetoprotein Gene and Increased Serum Alpha- Fetoprotein Level: A Case Control Study. Shahid Sadoughi University of Medical Sciences- Journal Management System, 3(1), 1-5. doi: 10.18502/wjpn.v3i1.5059
Mahdieh Yavari; Saghar Zakeri; Leila Pishkar; Mahta Mazaheri. "The Association between Polymorphism-119G>A of the Alpha-Fetoprotein Gene and Increased Serum Alpha- Fetoprotein Level: A Case Control Study". Shahid Sadoughi University of Medical Sciences- Journal Management System, 3, 1, 2020, 1-5. doi: 10.18502/wjpn.v3i1.5059
Yavari, M., Zakeri, S., Pishkar, L., Mazaheri, M. (2020). 'The Association between Polymorphism-119G>A of the Alpha-Fetoprotein Gene and Increased Serum Alpha- Fetoprotein Level: A Case Control Study', Shahid Sadoughi University of Medical Sciences- Journal Management System, 3(1), pp. 1-5. doi: 10.18502/wjpn.v3i1.5059
Yavari, M., Zakeri, S., Pishkar, L., Mazaheri, M. The Association between Polymorphism-119G>A of the Alpha-Fetoprotein Gene and Increased Serum Alpha- Fetoprotein Level: A Case Control Study. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2020; 3(1): 1-5. doi: 10.18502/wjpn.v3i1.5059
The Association between Polymorphism-119G>A of the Alpha-Fetoprotein Gene and Increased Serum Alpha- Fetoprotein Level: A Case Control Study
2Department of Biology, Faculty of Science, Yazd University, Yazd, Iran
3Department of Biology, Electronic Branch, Islamic Azad University, Tehran, Iran
4Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Abstract
Background: Alpha-fetoprotein is produced during pregnancy by the yolk sac, and then by the fetal liver. This hormone is secreted from early pregnancy, but its level of measurement is important from 15 to 21 weeks of gestation. The secretion of this hormone is very important because an increase in this hormone is associated with neural tube defects (NTDs) in the fetus. In this study, we analyzed the association between polymorphism-119G>A in the alpha-fetoprotein (AFp ) gene with increased AFP levels in mothers with no neural tube defects in their fetus. Methods: Participants were 50 pregnant women who had high alpha-fetoprotein but no neural tube defects in their fetus (the case group) and 50 pregnant women that their alpha fetoprotein was normal with no neural tube defects in their fetus (control group). After DNA extraction, the fragment including the desired polymorphism was amplified using the PCR technique, and then sequenced. Results: The results of this study showed that there was no significant relationship between this polymorphism and the increase in alpha fetoprotein in the study population. Conclusion: Future studies are needed to investigate other polymorphisms with higher specimens, and the relationship between this polymorphism, and the survival rate of pregnant mothers in the Iranian population.
Pitkin RM. Folate and neural tube defects. Am J Clin Nutr 2007; 85(1): 285S-8S.
Craig WY, Roberson M, Palomaki GE, Shackleton CH, Marcos J, Haddow JE. Prevalence of steroid sulfatase deficiency in California according to race and ethnicity. Prenatal diagnosis 2010; 30(9): 893-8.
Van Dyke DL, Milunsky A. Amniotic fluid constituents, cell culture, and neural tube defects. In: Milunsky A, Milunsky JM. Genetic disorders and the Fetus. Hoboken, NJ: Wiley Online Library; 2015. p. 98-177.
Gitlin D, Perricelli A, Gitlin GM. Synthesis of AFP by liver, yolk sac and intestinal tract of the human concepts. Cancer Res 1972; 32(5): 970-2.
Norgaard‐Pedersen B, Bagger P, Bang J, Fischer‐Rasmussen W, Gad C, Hasch E, et al. Maternal serum alpha phetoprotein screening for fetal malformations in 28062 pregnancies: A four‐year experience from a low‐risk area. AOGS 1985; 64(6): 511-4.
Sharony R, Dayan D, Kidron D, Manor M, Berkovitz A, Biron-Shental T, et al. Is the ratio of maternal serum to amniotic fluid AFP superior to serum levels as a predictor of pregnancy complications? Arch Gynecol Obstet 2016; 293(4): 767-70.
Lazarevich N. Molecular mechanisms of alpha-fetoprotein gene expression. Biochemistry (Moscow) 2000; 65(1): 117-33.
Feuerman MH, Godbout R, Ingram RS, Tilghman SM. Tissue-specific transcription of the mouse alpha-fetoprotein gene promoter is dependent on HNF-1. Mol Cell Biol 1989; 9(10): 4204-12.
Bois-Joyeux B, Danan J-L. Members of the CAAT/enhancer-binding protein, hepatocyte nuclear factor-1 and nuclear factor-1 families can differentially modulate the activities of the rat α-fetoprotein promoter and enhancer. Biochem J 1994; 301(Pt 1): 49-55.
McVey JH, Michaelides K, Hansen LP, Ferguson-Smith M, Tilghman S, Krumlauf R, et al. AG→ A substitution in an HNF I binding site in the human α-fetoprotein gene is associated with hereditary persistence of α-fetoprotein (HPAFP). Hum Mol Genet 1993; 2(4): 379-84.
Houwert A, Giltay J, Lentjes E, Lock M. Hereditary persistence of alpha-fetoprotein (HPAF P): review of the literature. Neth J Med 2010; 68(11): 354-8.
Alj Y, Georgiakaki M, Savouret J-F, Mal F, Attali P, Pelletier G, et al. Hereditary persistence of α-fetoprotein is due to both proximal and distal hepatocyte nuclear factor-1 site mutations. Gastroenterology 2004; 126(1): 308-17.
Waldmann TA, McIntire KR. The use of a radioimmunoassay for alpha‐fetoprotein in the diagnosis of malignancy. Cancer 1974; 34(S8): 1510-5.
