Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation-independent amyloidosis

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Yalcinkaya F., Cakar N., Misirlioglu M., Tumer N., Akar N., Tekin M., ...Daha Fazla

RHEUMATOLOGY, cilt.39, sa.1, ss.67-72, 2000 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 1
  • Basım Tarihi: 2000
  • Doi Numarası: 10.1093/rheumatology/39.1.67
  • Dergi Adı: RHEUMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.67-72
  • Anahtar Kelimeler: familial Mediterranean fever, Turks, genotype-phenotype, amyloidosis, PYRIN GENE, DIAGNOSIS, FMF
  • Ankara Üniversitesi Adresli: Evet

Özet

Objectives. Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identified. The results of initial mutation studies have led to the hypothesis that phenotypic variation of the disease may be attributable to the existence of some of these mutations. The purpose of this study was to evaluate whether this phenotypic variation is associated with the existence of particular mutations in Turkish FMF patients living in Turkey.