RRML - Investigation of the relationship between the risk of spontaneous abortion and C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene

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Nr. 20(4)/2012

Investigation of the relationship between the risk of spontaneous abortion and C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene

Daniela Neagos, Ruxandra Cretu, Roxana C. Sfetea, Dana Mierla, Laurentiu C. Bohiltea

Abstract:

Pathogenesis in spontaneous abortion is complex and involves the interaction of multiple genetic and environmental factors. C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene have implications in the fetal viability. This paper aims to establish the association between these polymorphisms and the risk of miscarriage. In this study we determined the allelic and genotypic frequencies of the MTHFR gene polymorphisms in a sample of 250 women from Romania, 100 with 1-3 miscarriages and 150 without history of miscarriages. The genomic DNA was extracted from the peripheral blood collected on EDTA and the kit used was the peqGOLD blood DNA mini kit (ATP Biotech). The methods used to study polymorphisms were PCR and RFLP. The results of this study showed that women with spontaneous abortion have a higher proportion of the 677TT genotype compared with the control group and the distribution of allelic and genotypic frequencies for polymorphism A1298C, does not present significant differences between the study group and control. The study also found that the frequency of the combined 677TT/1298 AA genotypes is higher in the study group compared with control being associated with the risk of miscarriage. In conclusion, the study revealed significant differences between the results obtained from the two groups.

Keywords: spontaneous abortion,folate,methylenetetrahydrofolate reductase ,polymorphisms.

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Neagos D, Cretu R, Sfetea RC, Mierla D, Bohiltea LC. Investigation of the relationship between the risk of spontaneous abortion and C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene. Rev Romana Med Lab. 2012;20(4):335-43