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, vol.38, no.3, pp.205-208, 2008 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 3
  • Publication Date: 2008
  • Journal Name: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.205-208
  • Keywords: familial Mediterranean fever (FMF), amyloidosis, MEFV gene, R202Q, FAMILIAL-MEDITERRANEAN-FEVER, AMYLOIDOSIS, FMF
  • Ankara University Affiliated: Yes

Abstract

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.