Evaluation of polymorphisms associated with recurrent miscarriage in MTHFR gene in Khuzestan province

Document Type : Research Paper

Authors

1 2) Department of Biology, Dezful Branch, lslamic Azad University, Dezful, Iran.

2 master Department of Biology, Dezful Branch, lslamic Azad university, Dezful, Iran.

3 3) Department of Biology, Faculty of Science, Shahid Chamran Univrsity of Ahvaz, Ahvaz, iran.

Abstract

Background and purpose: Recurrent Pregnancy Loss (RPL) is a multifactorial disorder responsible for 15% of miscarriages. The fundamental causes of recurrent miscarriage are unknown. Research shows that MTHFR polymorphism is a main genetic risk factor for recurrent miscarriage. Accordingly, this study aimed to investigate and compare the frequency of different mutations among women with recurrent miscarriage.

Cases and Methods: In this study, 50 women with recurrent miscarriages had at least two or more miscarriages studied. In this study, two polymorphisms of the MTHFR gene had investigated by a polymerase chain reaction and product enzyme digestion (PCR) with endonuclease restriction enzymes (PCR) The results had obtained from the genotype determination of each polymorphism which had analyzed by SPSS software.

Results: Out of 50 women with recurrent miscarriage, fifteen (30%) were negative for both mutations, and 11 (22%) were both heterozygous for A> C 1298 and C> T> 677. eight patients (16%) were heterozygous, and three of them (6%) were homozygous C> T 677, and twelve (24%) were heterozygous, and just one of them (2%) were homozygous A> C 1298.

Conclusion: The results showed that mutations C677T and A1298C of the MTHFR gene have a drastic role in thrombophilia and showed a high relative frequency of these mutations in women with miscarriage.

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Articles in Press, Accepted Manuscript
Available Online from 30 January 2023
  • Receive Date: 05 October 2021
  • Revise Date: 05 July 2022
  • Accept Date: 06 December 2022