Department of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Department of Modern Sciences and Technology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Arch Gynecol Obstet. 2019 Sep;300(3):777-782. doi: 10.1007/s00404-019-05224-7. Epub 2019 Jul 17.
The relationship between thrombophilia genes and recurrent pregnancy loss has been discussed. The aim of this study was to investigate the association between of MTHFR C677T, A1298C, F2G20210A, and F5 G1691A genetic variants among Iranian women with recurrent miscarriage.
A total of 245 women with two or more recurrent pregnancy loss, with mean age years were enrolled in the study. To compare genotypes, we have selected 250 healthy women without history of miscarriage as control group. Genomic DNA of participants was evaluated using polymerase chain reaction followed by Sanger sequencing to determine the genotype frequency.
The mean age were 32.16 ± (21-42) and 31.81 ± (19-40) for case and control groups respectively. MTHFR C677T and A1298C mutant alleles were found to be significantly more prevalent in patients than control. However, F2G20210A and F5 G1691A genetic variants showed no significance.
The allele frequencies for the assessed genotypes in this study are consistent with the data obtained for other countries. We observed significant susceptible effects of MTHFR C677T, and A1298C among participants. According to the relatively high prevalence of these variants, we recommend genetic testing for women with RPL before therapeutic decisions.
血栓形成倾向基因与复发性妊娠丢失之间的关系已被讨论。本研究旨在探讨伊朗复发性流产妇女中 MTHFR C677T、A1298C、F2G20210A 和 F5 G1691A 遗传变异与复发性妊娠丢失之间的关系。
本研究共纳入 245 名有两次或两次以上复发性妊娠丢失且平均年龄为岁的女性。为了比较基因型，我们选择了 250 名没有流产史的健康女性作为对照组。采用聚合酶链反应（PCR）结合 Sanger 测序法检测参与者的基因型频率，以评估基因组 DNA。
病例组和对照组的平均年龄分别为 32.16±(21-42)岁和 31.81±(19-40)岁。MTHFR C677T 和 A1298C 突变等位基因在患者中的频率明显高于对照组。然而，F2G20210A 和 F5 G1691A 遗传变异没有显著差异。
本研究评估的基因型等位基因频率与其他国家获得的数据一致。我们观察到 MTHFR C677T 和 A1298C 对参与者具有显著的易感作用。鉴于这些变异的相对高发生率，我们建议在做出治疗决策之前对 RPL 女性进行基因检测。
