Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers


ÖZDEMİR Ö., SEZGİN İ., Kurtulgan H. K. , CANDAN F., Koksal B., Sumer H., ...More

MOLECULAR BIOLOGY REPORTS, vol.38, no.5, pp.3195-3200, 2011 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 5
  • Publication Date: 2011
  • Doi Number: 10.1007/s11033-010-9991-7
  • Title of Journal : MOLECULAR BIOLOGY REPORTS
  • Page Numbers: pp.3195-3200
  • Keywords: FMF, Allelic frequencies, Sivas population, Turkey, FAMILIAL MEDITERRANEAN FEVER, TURKEY, COLCHICINE, CHILDREN, FREQUENCY, RESISTANT, REGION, M694V, FMF

Abstract

The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients' clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.