Is MEFV gene Arg202Gln (605 G > A) a disease-causing mutation?

Ozturk A., ÖZÇAKAR Z. B., Ekim M., Akar N.

TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.38, sa.3, ss.205-208, 2008 (SCI-Expanded, Scopus, TRDizin) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 3
  • Basım Tarihi: 2008
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.205-208
  • Anahtar Kelimeler: familial Mediterranean fever (FMF), amyloidosis, MEFV gene, R202Q, FAMILIAL-MEDITERRANEAN-FEVER, AMYLOIDOSIS, FMF
  • Ankara Üniversitesi Adresli: Evet

Özet

Aim: Familial Mediterranean fever (FMF) is an autosomal recessive disease. Arg202Gln was reported as a frequent polymorphism, and G allele of the mutation was in linkage disequilibrium with M694V. Thus, the aim of this study was to determine the distribution of the R202Q (605G > A) mutation in exon 2 of the MEFV gene in Turkish FMF patients and controls.