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

Date

2009

Author

Koksal, Binnur
Nur, Naim
Sari, Musa
Candan, Ferhan
Acemoglu, Mursit
Kocak, Nadir
Ozen, Filiz
Ozdemir, Ozturk

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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.

Source

BIOLOGIA

Volume

64

Issue

2

URI

https://dx.doi.org/10.2478/s11756-009-0047-1
https://hdl.handle.net/20.500.12418/10161

Collections

  • Makale Koleksiyonu [5200]
  • Makale Koleksiyonu [5745]
  • Öksüz Yayınlar Koleksiyonu - WoS [6162]



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