Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations

DOĞAN H., Bayrak O. F., Emet M., Keles M., GÜLLÜOĞLU Ş., Gul Z., ...Daha Fazla

GENE, cilt.568, sa.2, ss.170-175, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 568 Sayı: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.gene.2015.05.045
  • Dergi Adı: GENE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.170-175
  • Anahtar Kelimeler: DNA sequencing, FMF, MEFV, Rare mutation, MEFV GENE, MISSENSE MUTATIONS, TURKEY, FREQUENCY, FMF, POPULATION, REGION, PREVALENCE, PHENOTYPE, SPECTRUM
  • Marmara Üniversitesi Adresli: Hayır

Özet

We aimed to determine the frequency of mutations, carrier rates and the association of rare mutations with Familial Mediterranean Fever (FMF) symptoms. There is a need to evaluate as many different populations as possible in order to determine either specific rare mutations or a range of disease-associated mutations. The demographic data and FMF symptoms related to MEFV gene mutations were collected from 731 participants. Exon 2 and exon 10 of the MEFV gene were tested by DNA sequencing. The rare mutations were identified as: M694I (1.1%, n = 12), E148V (0.6%, n = 6), T267I (0.5%, n = 5), L110P (0.2%, n = 2), E167D (0.2%, n = 2), K695R (0.1%, n = 1) and an insertion G (Guanine) mutation (0.4%, n = 4) at the 777th codon of exon 10. We used routine comprehensive detection systems such as Sanger sequence that can catch rare mutations, for definite diagnosis and treatment of FMF disease. (C) 2015 Published by Elsevier B.V.