Research in Molecular Medicine
Research in Molecular Medicine
Res Mol Med (RMM)
Medical Sciences
http://rmm.mazums.ac.ir
1
admin
2322-1348
2322-133X
10.29252/rmm
en
jalali
1393
8
1
gregorian
2014
11
1
2
4
online
1
fulltext
en
R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis
ژنتیک
Genetic
پژوهشي
Research
<p><strong>Background: </strong>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 (<i>MEFV</i> gene). Therefore, mutation in <i>MEFV</i> may be associated with SoJIA diseases. This study aimed to identify the association between R202Q mutation in exon 2 of <i>MEFV</i> gene and SoJIA disease.</p>
<p><strong>Materials and Methods: </strong>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 <i>Pvu</i>II and then separated by gel electrophoresis.</p>
<p><strong>Results: </strong>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.</p>
<p><strong>Conclusion: </strong>The present study showed that the mutation in <i>MEFV</i> gene is a susceptible factor in development of SoJIA disease in Iranian patients.</p>
<p></p>
Mediterranean fever, Pyrin, R202Q, RFLP-PCR, Juvenile Idiopathic Arthritis
30
32
http://rmm.mazums.ac.ir/browse.php?a_code=A-10-693-1&slc_lang=en&sid=1
Shirin
Farivar
s_farivar@sbu.ac.ir
10031947532846006140
10031947532846006140
Yes
Department of Genetics, Faculty of Biological Sciences, Shahid Beheshti University (GC)
Mahdieh
Hasani
Mahdieh68hasani@gmail.com
10031947532846006141
10031947532846006141
No
Department of Genetics, Faculty of Biological Sciences, Shahid Beheshti University (GC)
Reza
Shiari
shiareza@yahoo.com
10031947532846006142
10031947532846006142
No
Division of Pediatric Rheumatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences