Analysis of polymorphisms in recurrent pregnancy loss: Factor V Leiden G1691A, Factor II G20210A, MTHFR C677T and Factor V H1299R
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Mujgan Ozdemir Erdogan 1 * , Munevver Nisa Can 2 , Cem Karaosmanoglu 1 , Saliha Handan Yildiz 1 , Mustafa Yildiz 2
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1 Afyonkarahisar Health Sciences University, School of Medicine, Department of Medical Genetics, Afyonkarahisar, Turkey2 Afyon Kocatepe University, Faculty of Arts and Sciences, Department of Molecular Biology and Genetics, Afyonkarahisar, Turkey* Corresponding Author

Abstract

The distribution of factor V Leiden G1691A, factor II G20210A, MTHFR C677T, and factor V H1299R polymorphisms known to predispose to thrombophilia in 215 cases and 40 controls admitted with indication of recurrent pregnancy loss (RPL) was investigated. Genotyping was performed by melting curve analysis using simultaneous PCR (RT-PCR). There was no difference between genotype and allele frequencies in the case and control groups in terms of the polymorphisms examined (p>0.05). In the genotype distribution of the Factor V gene G1691A polymorphism, 12.6% GA in the case group and 90.0% GG (wild) genotypes in the control group were found to be higher than the other genotypes. In the genotype distribution of the factor II gene G20210A polymorphism, the GG (wild) genotype was found to be higher in 94.5% and 97.5%, respectively, in the case group and control group than the other genotypes. In the genotype distribution of MTHFR gene C677T polymorphism, 43.7% CC (wild) in the case group and 40.0% CT genotype in the control group were found to be higher than the other genotypes. In the genotype distribution of the factor V gene A4070G polymorphism, 87.4% AA (wild) in the case group and 80% AA (wild) genotype in the control group were found to be higher than the other genotypes. However, the frequency of risk allele A for factor V Leiden G1691A (6.8% and 5%), the frequency of risk allele A for factor II gene G20210A (3% and 1.2%), MTHFR gene C677T were determined in the case and control groups. The frequency of the T allele (35.9% and 42.5%), which is the risk allele for A4070G, and the frequency of the G allele (6.5% and 16.6%), which is the risk allele for the factor V gene A4070G, were determined. When our study results were evaluated, no relationship was found between RPL and factor V Leiden G1691A, factor II G20210A, MTHFR C677T, and factor V A4070G polymorphisms.

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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.

Article Type: Research Article

J CLIN EXP INVEST, 2022, Volume 13, Issue 4, Article No: em00801

https://doi.org/10.29333/jcei/12373

Publication date: 18 Aug 2022

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