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Current Drug Targets - Inflammation & Allergy

Editor-in-Chief

ISSN (Print): 1568-010X
ISSN (Online): 1568-010X

Molecular Study of FMF Patients in Armenia

Author(s): T. Sarkisian, H. Ajrapetyan and G. Shahsuvaryan

Volume 4, Issue 1, 2005

Page: [113 - 116] Pages: 4

DOI: 10.2174/1568010053622885

Price: $65

Abstract

Familial Mediterranean Fever (FMF, MIM 249100), or Periodic disease, is a recessively transmitted and ethnically restricted condition prevalent in population from the Mediterranean decent. FMF notoriously has been hard to diagnose until mutations in the MEFV gene have been identified and as a tremendous help are used for the diagnosis of difficult cases. Since FMF can be controlled by medication, it is extremely desirable to have a firm diagnosis. The aim of this study was to establish the frequency of the most common mutations and genotypes in Armenian population. Molecular analysis of MEFV gene mutations in 3000 Armenian patients has demonstrated direct correlation between the clinical severity and the molecular diagnostic criteria of the disease, including the development of renal amyloidosis with MEFV genotypes. MEFV genotyping performed in the framework of a genetic counseling may reveal and identify affected individuals in presymptomatic phase, providing the possibility of a precocious start of the therapy.

Keywords: fmf, mefv gene mutations, genotype and phenotype correlations


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