Table of Contents
ISRN Obstetrics and Gynecology
Volume 2012, Article ID 945486, 6 pages
Research Article

Methylenetetrahydrofolate Reductase C677T and A1298C Mutations in Women with Recurrent Spontaneous Abortions in the Northwest of Iran

1Department of Cellular and Molecular Biology, Faculty of Sciences, Azarbaijan University of Tarbiat Moallem, Tabriz, Iran
2Students’ Scientific Research Center & Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
3Department of Obstetrics and Gynecology, Women’s Reproductive Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
4School of Medicine, University of Liverpool, Merseyside, Liverpool L69 3GE, UK
5Tuberculosis and Lung Disease Research Center and Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz 51656 38464, Iran
6Tabriz Genetic Analysis Center (TGAC), Tabriz University of Medical Sciences, Tabriz 51656 38464, Iran

Received 26 August 2012; Accepted 8 October 2012

Academic Editors: C. Escudero and M. T. Sanseverino

Copyright © 2012 Ahmad Poursadegh Zonouzi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Introduction. Recurrent spontaneous abortion (RSA) is a significant obstetrical complication that may occur during pregnancy. Various studies in recent years have indicated that two common mutations (C677T and A1298C) of the methylenetetrahydrofolate reductase (MTHFR) gene are risk factor for RSA. This study was carried out to determine the influence of (C677T and A1298C) of the methylenetetrahydrofolate reductase (MTHFR) gene mutations with RSA. Materials and Methods. A total of 139 women were included in this study: 89 women with two or more consecutive miscarriages and 50 healthy controls. Total genomic DNA was isolated from blood leukocytes. To determine the frequency of the two common C677T and A1298C MTHFR gene mutations in the patients and controls, we used two methods, amplification refractory mutation system-PCR and PCR-restriction fragment length polymorphism. Results. There is no significant difference in the prevalence of 677T/T genotype among women with RSA and healthy controls ( ). Also no statistically significant difference in the frequency of A1298C MTHFR gene mutation was detected between the two groups ( ). Conclusion. In conclusion, the results indicate that the Amplification Refractory Mutation System-PCR method was in complete concordance with the results obtained by standard PCR-restriction fragment length polymorphism method. The results also show no significant difference in MTHFR C677T/A1298C genotype distribution among the two groups; therefore, further studies on larger population and other genetic variants to better understand the pathobiology of RSA are needed.