Frequency of Methylenetetrahydrofolatereductase C677T and A1298C mutations and recurrent spontaneous abortion

Recurrent spontaneous abortion (RSA) is an obstetrical complication that may occur during pregnancy and Thrombophilic predisposition is one of theimportant causes of RSA. Various studies have indicated that C677T and A1298C are two common mutations of the methylenetetrahydrofolatereductase (MTHFR) gene and are considered as risk factors for this complication. We studied the prevalence of methylenetetrahydrofolatereductasegene mutations (C677T and A1298C) in patients with recurrent spontaneous abortions. In this studytotal genomic DNA was isolated from whole bloodof women with two or more consecutive miscarriages and the frequency of C677T and A1298C MTHFR gene mutations were analyzed by using PCR-restriction fragment lengthpolymorphism method. The frequency of C677T and A1298C MTHFR gene mutations respectively were 66% and 30%inthe patients with RSA in northwest of Iran. In contrast to the other studies, significant prevalence of A1298C MTHFR mutation to be seenin this study and to confirm these differences, future studies are necessary.

Keywords:

abortion , MTHFR , mutation