Balaji PV¹,
Manibalan V²,
Thirumaran M³,
Ranjith Babu K⁴
¹Professor & Head, Department of Physiology,
²Associate Professor of Physiology,
³Professor, Department of Physiology, Vinayaka Mission’s Medical College & Hospital, Karaikal, Puducherry
⁴Assistant Professor,
Department of Physiology,
Dr.Patnam Mahender Reddy Institute of Medical Sciences,
Chevella, Telangana,

Abstract

• Introduction: Recurrent pregnancy loss (RPL) is defined as two or more failed pregnancies. It is a multifactorial disorder like genetic disorders, endocrine dysfunctions, uterine pathologies, autoimmune diseases, acquired and inherited thrombophilia as well as environmental factors are major concern in gynecology. Mutations of MTHFR are most extensively stated thrombophilic mutants when evaluating patients suffering from RPL. The occurrence of mutations of MTHFR 677 was found to be with higher significant frequency in the women presented with RPL.
• Materials and Methods: A total of 50 women with RPL were selected as study group and 50 women were included as the control group. Blood samples were collected and DNA extraction was done and is subjected to PCR amplification. Statistical analysis was done using IBM SPSS Statistics 20 package. p-value of <0.05 is considered as statistically significant.
• Results: Compared with the MTHFR 677CC genotype, the MTHFR 677TT genotype was associated with a greater likelihood of RPL. Similar finding was observed with regard to the frequencies of the 2 genotypes and alleles of MTHFR A1298C also between the patient group and the control group.
• Conclusion: Overall, the present study shows that RPL is associated with MTHFR A1298C, C677T polymorphisms, but the relationship requires further in-depth analysis with inclusion of wide range of parameters.

Keywords: A1298C, C677T, MTHFR, recurrent pregnancy loss (RPL), single nucleotide polymorphism (SNP)