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Common Mediterranean fever gene mutations in the Azeri Turkish population of Iran

Mortaza Bonyadi, Mohsen Esmaeili, Abbas Karimi

    Genetic Testing and Molecular Biomarkers
    |November 26, 2009
    PubMed

    Insights

    Familial Mediterranean fever (FMF) carrier rates are high in the Iranian Azeri Turkish population, with the E148Q mutation being the most frequent. This study screened 200 healthy individuals for common MEFV gene mutations.

    Area of Science:

    • Genetics
    • Population Health
    • Molecular Biology

    Background:

    • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder.
    • Characterized by recurrent fever, serosal inflammation, and risk of nephropathic amyloidosis.
    • Over 70 mutations in the Mediterranean fever gene (MEFV) are linked to FMF.

    Discussion:

    • This study investigated the carrier rate of five common MEFV mutations in 200 healthy Iranian Azeri Turks.
    • Genotyping utilized amplification refractory mutation system (ARMS) and polymerase chain reaction-restriction digestion.
    • Identified a high FMF carrier rate of 25.5% in this population.

    Key Insights:

    • The E148Q mutation was the most prevalent, found in 11.5% of individuals.
    • V726A mutation was observed at a frequency of 1.75%.
    • Other common MEFV mutations were not detected in the screened cohort.

    Outlook:

    • High carrier frequency of FMF and E148Q mutation in Iranian Azeri Turks warrants further investigation.
    • Potential implications for genetic counseling and FMF screening programs in the region.
    • Further research could explore the clinical significance of these mutations in the population.

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