Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations

Journal of genetics

MARYAM BEHESHTIAN²  MARYAM AZAD³  ELHAM PARSI MEHR³  MASOUMEH HOSSEINI³  HOSSEIN NAJMABADI1 2²  KIMIA KAHRIZI²  STEFAN NEMETH¹  ARIANA KARIMINEJAD³  NASIM IZADI³  CHRISTIAN OBERKANINS3¹  MARYAM ROSTAM³  GERNOT KRIEGSHAUSER¹  MONA MONTAJABINIAT³ 

[1] ViennaLab Diagnostics GmbH, Gaudenzdorfer Guertel 43-45, A-1120 Vienna, Austria$$;Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Alley, Daneshjoo Blvd., Evin St., 1985713834 Tehran, Iran$$;Molecular Biology Division, Kariminejad-Najmabadi Pathology and Genetics Center, #2, Fourth St., Hasan Seyf Ave., Sanat Sq., Shahrak Gharb, Tehran 14667-13713, Iran$$

关键词: familial Mediterranean fever;    MEFV gene;    marenostrin;    pyrin;    Iran.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 摘 要 】

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Armenian, Turkish, Jewish and Middle East Arab populations. To identify the frequency and the spectrum of common MEFV mutations in different Iranian populations, we investigated a cohort of 208 unselected asymptomatic individuals and 743 FMF patients. Nine hundred and fifty-one samples were analysed for the presence of 12 MEFV mutations by PCR and reverse-hybridization (FMF StripAssay, ViennaLab, Vienna, Austria). Confirmatory dideoxy sequencing of allMEFV gene exons was performed for 39 patients. Fifty-seven (27.4%) healthy individual carried mutant MEFV alleles. Three hundred and ninety-one (52.6%) FMF patients were found positive for either one (172/743; 23.1%), two or threeMEFV mutations. Using dideoxy sequencing, three novel variants, A66P, R202W and H300Q, could be identified. Our analysis revealed an allele frequency and carrier rate of 15.6 and 27.4%, respectively, among healthy Iranians. Stillmoderate compared to neighbouring Armenia, but higher than in Turkey or Iraq, these data suggest that FMF is remarkably common among Iranian populations. E148Q was most frequent in the group of healthy individuals, whereas M694V wasthe most common mutation among FMF patients, thereby corroborating previous studies on MEFV mutational spectra in the Middle East. Accordingly,MEFV mutations are frequent in healthy Iranian individuals across different ethnic groups. Based on this finding, the awareness for FMF and the implementation of augmented carrier screening programmes considering the multiethnic nature of the Iranian population should be promoted.

【 授权许可】

Unknown