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Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population

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Abstract

Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis. The aim of the current study is to determine the frequency of the mutations in 365 suspected FMF patients and to reveal whether there is a correlation between genotype and phenotype of these patients. All patients were clinically examined according to Tell-Hashomer FMF criteria and were screened genetically in terms of common 12 Mediterranean fever gene (MEFV) mutations. Various point mutations were detected in 270 (74%) patients. The most frequent mutation was M694V (26.85% of the alleles) and was followed by E148Q (15.55%), M680I (G/C) (9.62%) and V726A (7.96%). Patients who bear M694V homozygous mutation had most severe disease phenotype and high risk for amyloidosis (P = 0.04). Our results indicate that Sivas population has a wide range of heterozygous mutated carriers of MEFV gene and there is a high frequency of E148Q allele when compared to the other Mediterranean groups.

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Abbreviations

ASC:

apoptosis-associated speck-like protein containing a caspase-recruitment domain

FMF:

familial Mediterranen fever

IFN:

interferon

IL:

interleukin

MEFV :

Mediterranean fever gene

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Authors and Affiliations

  1. Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, 58140, Sivas, Turkey

    Binnur Koksal, Nadir Kocak, Filiz Ozen & Ozturk Ozdemir

  2. Department of Public Health, Faculty of Medicine, Cumhuriyet University, 58140, Sivas, Turkey

    Naim Nur

  3. Department of Biology, Faculty of Science, Cumhuriyet University, 58140, Sivas, Turkey

    Musa Sari

  4. Department of Interior Medicine, Faculty of Medicine, Cumhuriyet University, 58140, Sivas, Turkey

    Ferhan Candan

  5. Department of Pediatrics, Sivas Social Insurance Hospital, 58140, Sivas, Turkey

    Mursit Acemoglu

Authors
  1. Binnur Koksal
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  2. Naim Nur
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  3. Musa Sari
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  4. Ferhan Candan
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  6. Nadir Kocak
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  7. Filiz Ozen
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  8. Ozturk Ozdemir
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Correspondence to Ozturk Ozdemir.

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Koksal, B., Nur, N., Sari, M. et al. Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population. Biologia 64, 388–393 (2009). https://doi.org/10.2478/s11756-009-0047-1

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  • DOI: https://doi.org/10.2478/s11756-009-0047-1

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