Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population


Yilmaz E., Ozen S., Balci B. , Duzova A. , Topaloglu R., Besbas N., ...Daha Fazla

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.9, sa.7, ss.553-555, 2001 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Konu: 7
  • Basım Tarihi: 2001
  • Doi Numarası: 10.1038/sj.ejhg.5200674
  • Dergi Adı: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Sayfa Sayıları: ss.553-555

Özet

Familial Mediterranean Fever (FMF) is a recessive disorder characterised by episodes of fever and neutrophil-mediated serozal inflammation. The FMF gene (MEFV) was recently identified and four common mutations characterised. The aim of this study was to determine the carrier rate in the Turkish population and the mutation frequency in the clinically diagnosed FMF patients. We found a high frequency of carriers in the healthy Turkish population (20%). The distribution of the five most common MEFV mutations among healthy individuals (M694V 3%, M6801 5%, V726A 2%, M6941 0% and E148Q 12%) was significantly different (P < 0.005) from that found in patients (M694V 51.55%, M6801 9.22%, V726A 2.88%, M6941 0.44% and E148Q 3.55%).