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:: Volume 30, Issue 3 (8-2022) ::
Journal of Ilam University of Medical Sciences 2022, 30(3): 12-28 Back to browse issues page
Analysis of Missense Mutations of CX3CR1 Gene in Patients with Recurrent Pregnancy Loss Using Bioinformatics Tools
Bahareh Mazrouei1 , Mohammad Mehdi Heidari * 2, Mehri Khatami1
1- Dept of Biology, Faculty of Science, University of Yazd, Yazd, Iran
2- Dept of Biology, Faculty of Science, University of Yazd, Yazd, Iran , heidarimm@yazd.ac.ir
Abstract:   (1292 Views)
Introduction: Abortion is a common complication that refers to the early termination of pregnancy with the death of the fetus before the 20th week of pregnancy. Previous studies show that many genes are involved in this disease, including the CX3CR1 gene, which is one of the inflammatory response genes in the immune system. The pathogenicity of these variants was determined in this study using bioinformatics analysis.
Material & Methods: In this study, the effects of rs3732378 and rs3732379 mutation were predicted using bioinformatics tools including SIFT, PolyPhen2, PROVEAN, Predict SNP, and Exome Variant Server. Changes in the stability of mutant proteins were investigated using I-Mutant and DynaMut tools. Moreover, modeling of the protein structure, docking, and protein-ligand interaction were performed using SWISS-MODEL, SwissDock, and FRODOCK tools as well as PyMOL, Hawkdock, and MolSoft software, respectively.
Findings: Many polymorphisms related to the CX3CR1 gene have been known to date. Out of 244 missense mutations in the dbSNP database, two variants (rs3732378 and rs3732379) have been reported in association with recurrent pregnancy loss related to the CX3CR1 gene. The results of bioinformatics analyses showed that both variants were predicted as pathogenic mutations and changed the stability of the protein structure and played a key role in interaction with the ligand.
Discussion & Conclusion: The findings of this study indicate that two missense mutations in the CX3CR1 gene are an important candidate for recurrent miscarriage and their identification in patients with recurrent miscarriage can be regarded as a risk factor.
Keywords: Bioinformatics, CX3CR1 gene, Pathogenic mutation, Recurrent pregnancy loss
Full-Text [PDF 1875 kb]   (1144 Downloads)    
Type of Study: Research | Subject: biology
Received: 2021/01/9 | Accepted: 2022/01/29 | Published: 2022/08/6
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Mazrouei B, Heidari M M, Khatami M. Analysis of Missense Mutations of CX3CR1 Gene in Patients with Recurrent Pregnancy Loss Using Bioinformatics Tools. J. Ilam Uni. Med. Sci. 2022; 30 (3) :12-28
URL: http://sjimu.medilam.ac.ir/article-1-6948-en.html

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Volume 30, Issue 3 (8-2022) Back to browse issues page
مجله دانشگاه علوم پزشکی ایلام Journal of Ilam University of Medical Sciences
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