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IF 3.5 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology Pub Date : 2025-03-01 DOI:10.1016/j.jgeb.2025.100473

Noha A. Radwan , Heba El Gohary , Dalia Hamed , Noha M. Khalil , Dalia Abdelfatah , Amal Abdel Wahab , Marwa Mahmoud Elsharkawy

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引用次数: 0

摘要

背景冠状病毒 2（SARS-CoV-2）在全球范围内的大流行使人们的日常生活发生了翻天覆地的变化。FMF 患者的表现和实验室检查结果与 COVID 感染者极为相似。在本研究中，我们评估了 COVID-19 肺炎患者 MEFV 基因第 10 号外显子变异的存在及其与症状严重程度的关系。结果39名患者中有10人（26%）发现了变异，其中9人（23%）为杂合变异，1人（2.5%）为同源变异。最常见的变异是沉默变异 p.(P706 = ) (12.9%)，其次是错义变异 p.(A744S) (7.7%) 和 p.(V726A) (5.1%)。结论我们的研究结果表明，MEFV 基因变异（良性变异或意义不确定的变异）可在确定 COVID-19 严重程度方面发挥作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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MEFV gene variations in COVID-19 pneumonia patients (Pilot study)

Background

The emergence of worldwide pandemic caused by coronavirus 2 (SARS-CoV-2) has caused a radical change in everyday life. Patients diseased with FMF show manifestations and labs highly similar to COVID infected patients. In the current study, we evaluate the presence of variants in exon 10 of MEFV gene and the relation with severity of symptoms in patients with COVID-19 pneumonia.

Method

Thirty-nine COVID-19 infected patients admitted to Kasr Alainy medical school were divided into two groups moderate and severe. Sanger sequencing of exon 10 in MEVF gene was scanned in the 39 subjects.

Results

We identified variants in 10 out of 39 patients (26 %) with heterozygous variants in 9 patients (23 %) and homozygous in one patient (2.5 %). The most frequent variant found was the silent variant p.(P706 = ) (12.9 %) followed by missense variants p.(A744S) (7.7 %) and p.(V726A) (5.1 %). Striking result was that 90 % of patients with MEFV variants had moderate symptoms and without progression into the severe form of COVID-19 pneumonia.

Conclusion

Our results indicated that the presence of variants in MEFV gene (either benign or of uncertain significance) could have a role in determination of COVID-19 severity.

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来源期刊

Journal of Genetic Engineering and Biotechnology Biochemistry, Genetics and Molecular Biology-Biotechnology

CiteScore

5.70

自引率

5.70%

发文量

159

审稿时长

16 weeks

期刊介绍： Journal of genetic engineering and biotechnology is devoted to rapid publication of full-length research papers that leads to significant contribution in advancing knowledge in genetic engineering and biotechnology and provide novel perspectives in this research area. JGEB includes all major themes related to genetic engineering and recombinant DNA. The area of interest of JGEB includes but not restricted to: •Plant genetics •Animal genetics •Bacterial enzymes •Agricultural Biotechnology, •Biochemistry, •Biophysics, •Bioinformatics, •Environmental Biotechnology, •Industrial Biotechnology, •Microbial biotechnology, •Medical Biotechnology, •Bioenergy, Biosafety, •Biosecurity, •Bioethics, •GMOS, •Genomic, •Proteomic JGEB accepts