Assesment of Common Exon 10 MEFV Gene Mutations in Patients with Refractory Rheumatoid Arthritis

A. Mirzaei, S. Kolahi, Fatima Pashaei-Asl, S. Esmaeili
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Abstract

Objective: Rheumatoid arthritis (RA) is a common chronic inflammatory arthritis with many flare ups in some patients. New studies showed the importance of Mediterranean fever gene mutations in certain inflammatory conditions. We investigated molecular mutation in exon 10 of MEFV gene in patients with refractory RA and healthy individuals as a control group in North-West of Iran. Methods: We conducted thirty four patients with refractory RA and fifty healthy controls in this study. Their DNA samples were analyzed with specific primers, standard PCR and Sequencing techniques. We studied the most common exon 10 variations on MEFV gene which include; M680I, M694V, M694I and V726A. Results: The mean ages of patients with refractory RA were 43.8 ± 7.7 years and disease duration was 49.8 ± 7.36 months. The mean of DAS 28 (Disease Activity score) of patients with refractory RA was about 4.2 ± 0.51. The mean ages of healthy control cases were 45.4 ± 8.27 years. The result of DNA sequencing showed no mutations in common exon 10 variations of MEFV gene in both groups. Conclusion: According to the result, we found no association between severity of RA and common exon 10 MEFV gene mutations.
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难治性类风湿关节炎患者常见外显子10 MEFV基因突变的评估
目的:类风湿关节炎(RA)是一种常见的慢性炎症性关节炎,在一些患者中有许多突然发作。新的研究表明地中海热基因突变在某些炎症条件下的重要性。我们研究了伊朗西北部难治性RA患者和健康人MEFV基因外显子10的分子突变作为对照组。方法:选取34例难治性RA患者和50例健康对照。采用特异性引物、标准PCR和测序技术对其DNA样本进行分析。我们研究了MEFV基因最常见的外显子10变异,包括;M680I, M694V, M694I和V726A。结果:顽固性RA患者平均年龄43.8±7.7岁,病程49.8±7.36个月。难治性RA患者的DAS 28(疾病活动评分)平均值约为4.2±0.51。健康对照的平均年龄为45.4±8.27岁。DNA测序结果显示,两组MEFV基因共同外显子10变异均未发生突变。结论:根据结果,我们发现RA的严重程度与常见外显子10 MEFV基因突变无关。
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