دوشنبه 3 مهر 1396
به سایت مجله پزشکی دانشگاه علوم پزشکی و خدمات بهداشتی و درمانی تبریز خوش آمدید
   سپتامبر 25, 2017
   
   
     
  تعداد اعضاء : 2820 نفر
  بازدیدهای امروز :127 بار
  تعداد کل بازدیدها : 938124 بار
   
Volume: 38
Year: 2016
Month: 4
Subject Others
Title Rare MEFV Mutations in Patients with Henoch Schonlein Purpura from North West of Country
Authors Mortaza Bonyadi; Mahdieh Younesi; Mandana Rafeey; Mahnaz Sadeghi Shabestari; Fakhrossadat Mortazavi; Behzad Alyari;
Abstract Background & Objectives: Coexistence of Familial Mediterranean Fever (FMF) with various systemic vasculitides, such as Henoch Schonlein Purpura (HSP) and other inflammatory disorders has been reported and MEFV gene has been suggested to play a significant role in the pathogenesis of this association. In this study, the rare MEFV mutations in patients with HSP from north west of country and its association with clinical symptoms of disease were evaluated. Material and Methods: Forty unrelated patients were referred by specialists to the Molecular Medical Genetic Center of Tabriz. Clinical diagnosis of HSP was made according to published criteria. The control group consists of 200 ethnically matched persons apparently healthy without any kind of inflammatory diseases. Screening for the 3 mutations; R761H, P396S and R408Q were performed by using amplification refractory mutation system polymerase chain reaction (ARMS-PCR) and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). X2 test and Fisher's exact test were used to statistical analysis. Results: Of 40 patients studied, 37 (92.5%) showed without mutation, while 3 (7.5%) had MEFV mutation that three of them were compound heterozygous for the P396S/R408Q mutations. There was a statistically significant difference between the patient group and healthy individuals regarding P396S and R408Q mutations (p = 0.0043). Findings suggest that P369S and R408Q mutations always together occurred and not only contribute to the susceptibility to HSP, also associated with clinical symptom of fever. Conclusion: Our results suggest that some MEFV mutations could be a contributory genetic factor to HSP in the north west of the country.
Keywords: MEFV gene mutations, Henoch Schonlein Purpura
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ISSN 1608-5671 (Print)  

ISSN 2008-160X (Online)  
 
     
     
 

ضريب تأثير (IF) مجله پزشکی دانشگاه علوم پزشکی تبریز  در  پايگاه  استنادي علوم جهان اسلام (ISC)  

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