چکیده مقاله
Background: Familial Mediterranean Fever FMF , an auto inflammatory disease, is characterized by self limited inflammatory attacks of fever and poly serositis along with high acute phase response FMF primarily affects Jewish, Armenian, Turkish, and Arab populations Untreated or inadequately treated patients run the risk of amyloidosis, which is an important cause of morbidity and mortality Materials and methods: In this study, 416 patients from northwest of Iran were screened for 18 common MEFV variants using PCR Technique to detect SNPs in the MEFV gene Results: The onset age of first symptoms was between 1 to 20 years of life in majority of cases The four most prevalent symptoms observed in patients were abdominal pain, fever, joint pain, and vomiting Molecular analysis of 18 common MEFV variants was investigated in 416 FMF patients In 242 cases, different genotypes including heterozygous, homozygous, compound heterozygous and complex alleles were identified R202Q was the most prevalent variant among the subjects Conclusion: The molecular analysis of the MEFV variants revealed that R202Q was the most frequent variant R202Q allele frequency is significantly different from other ethnic groups except the Turkish population Despite other populations and some ethnic groups in which M694V was the most prevalent variant, in our study M694V was the third common variant, suggesting that allele frequencies greatly varying between countries, populations and ethnic groups
کلیدواژهها
نویسندگان
Ali Vahabi
Department of Genetics and Immunology, Faculty of medicine, Urmia University of Medical Sciences, Urmia, Iran
Armin Gharibi
Department of Biology, University of Tabriz, Tabriz, Iran
Esmaeil Babaei
Department of Biology, University of Tabriz, Tabriz, Iran
شیوه ارجاع
Vahabi, Ali and Gharibi, Armin and Babaei, Esmaeil,1401,MEFV genetic screening revealed R202Q as the most common variant among FMF patients,10th International Conference on Health, Treatment and Health Promotion
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