A. Mirzaei, S. Kolahi, Fatima Pashaei-Asl, S. Esmaeili
{"title":"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","authors":"A. Mirzaei, S. Kolahi, Fatima Pashaei-Asl, S. Esmaeili","doi":"10.22259/2639-3654.0101001","DOIUrl":null,"url":null,"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.","PeriodicalId":93165,"journal":{"name":"Archives of orthopedics and rheumatology","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Assesment of Common Exon 10 MEFV Gene Mutations in Patients with Refractory Rheumatoid Arthritis\",\"authors\":\"A. Mirzaei, S. Kolahi, Fatima Pashaei-Asl, S. Esmaeili\",\"doi\":\"10.22259/2639-3654.0101001\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":93165,\"journal\":{\"name\":\"Archives of orthopedics and rheumatology\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archives of orthopedics and rheumatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.22259/2639-3654.0101001\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives of orthopedics and rheumatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.22259/2639-3654.0101001","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Assesment of Common Exon 10 MEFV Gene Mutations in Patients with Refractory Rheumatoid Arthritis
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.