MEFV genetic screening revealed R۲۰۲Q as the most common variant among FMF patients

  • سال انتشار: 1401
  • محل انتشار: دهمین کنفرانس بین المللی بهداشت،درمان و ارتقای سلامت
  • کد COI اختصاصی: HWCONF10_085
  • زبان مقاله: انگلیسی
  • تعداد مشاهده: 377
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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

چکیده

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, ۴۱۶ patients from northwest of Iran were screened for ۱۸ common MEFV variants using PCR Technique to detect SNPs in the MEFV gene.Results: The onset age of first symptoms was between ۱ to ۲۰ 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 ۱۸ common MEFV variants was investigated in ۴۱۶ FMF patients. In ۲۴۲ cases, different genotypes including heterozygous, homozygous, compound heterozygous and complex alleles were identified. R۲۰۲Q was the most prevalent variant among the subjects.Conclusion: The molecular analysis of the MEFV variants revealed that R۲۰۲Q was the most frequent variant. R۲۰۲Q allele frequency is significantly different from other ethnic groups except the Turkish population. Despite other populations and some ethnic groups in which M۶۹۴V was the most prevalent variant, in our study M۶۹۴V was the third common variant, suggesting that allele frequencies greatly varying between countries, populations and ethnic groups.

کلیدواژه ها

MEFV, FMF, R۲۰۲Q

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