R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis
Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High le...
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| Format: | Article |
| Language: | English |
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Mazandaran University of Medical Sciences and Health Services
2014-10-01
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| Series: | Research in Molecular Medicine |
| Subjects: | |
| Online Access: | http://rmm.mazums.ac.ir/browse.php?a_code=A-10-693-1&slc_lang=en&sid=1 |
| _version_ | 1811276692733296640 |
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| author | Shirin Farivar Mahdieh Hasani Reza Shiari |
| author_facet | Shirin Farivar Mahdieh Hasani Reza Shiari |
| author_sort | Shirin Farivar |
| collection | DOAJ |
| description | Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and secretion of IL-1 β is related to pyrin coded by mediterranean fever gene (MEFV gene). Therefore, mutation in MEFV may be associated with SoJIA diseases. This study aimed to identify the association between R202Q mutation in exon 2 of MEFV gene and SoJIA disease. Materials and Methods: This study was done in 30 SoJIA patients and 30 controls. DNA was extracted from blood cells and analyzed by RFLP-PCR. The PCR product was digested with PvuII and then separated by gel electrophoresis.Results: R202Q mutation was found in 3.3% of control and 43.3% of patient group. Significant statistical differences were observed between cases and controls in the R202Q mutation. Conclusion: The present study showed that the mutation in MEFV gene is a susceptible factor in development of SoJIA disease in Iranian patients. |
| first_indexed | 2024-04-13T00:01:16Z |
| format | Article |
| id | doaj.art-521b0c9d585142809ee5fc66ea4456cb |
| institution | Directory Open Access Journal |
| issn | 2322-1348 2322-133X |
| language | English |
| last_indexed | 2024-04-13T00:01:16Z |
| publishDate | 2014-10-01 |
| publisher | Mazandaran University of Medical Sciences and Health Services |
| record_format | Article |
| series | Research in Molecular Medicine |
| spelling | doaj.art-521b0c9d585142809ee5fc66ea4456cb2022-12-22T03:11:20ZengMazandaran University of Medical Sciences and Health ServicesResearch in Molecular Medicine2322-13482322-133X2014-10-01243032R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic ArthritisShirin Farivar0Mahdieh Hasani1Reza Shiari2 Department of Genetics, Faculty of Biological Sciences, Shahid Beheshti University (GC) Department of Genetics, Faculty of Biological Sciences, Shahid Beheshti University (GC) Division of Pediatric Rheumatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and secretion of IL-1 β is related to pyrin coded by mediterranean fever gene (MEFV gene). Therefore, mutation in MEFV may be associated with SoJIA diseases. This study aimed to identify the association between R202Q mutation in exon 2 of MEFV gene and SoJIA disease. Materials and Methods: This study was done in 30 SoJIA patients and 30 controls. DNA was extracted from blood cells and analyzed by RFLP-PCR. The PCR product was digested with PvuII and then separated by gel electrophoresis.Results: R202Q mutation was found in 3.3% of control and 43.3% of patient group. Significant statistical differences were observed between cases and controls in the R202Q mutation. Conclusion: The present study showed that the mutation in MEFV gene is a susceptible factor in development of SoJIA disease in Iranian patients.http://rmm.mazums.ac.ir/browse.php?a_code=A-10-693-1&slc_lang=en&sid=1Mediterranean fever Pyrin R202Q RFLP-PCR Juvenile Idiopathic Arthritis |
| spellingShingle | Shirin Farivar Mahdieh Hasani Reza Shiari R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis Research in Molecular Medicine Mediterranean fever Pyrin R202Q RFLP-PCR Juvenile Idiopathic Arthritis |
| title | R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis |
| title_full | R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis |
| title_fullStr | R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis |
| title_full_unstemmed | R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis |
| title_short | R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis |
| title_sort | r202q mutation of mediterranean fever gene in iranian patients with systemic onset juvenile idiopathic arthritis |
| topic | Mediterranean fever Pyrin R202Q RFLP-PCR Juvenile Idiopathic Arthritis |
| url | http://rmm.mazums.ac.ir/browse.php?a_code=A-10-693-1&slc_lang=en&sid=1 |
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