Publication: Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers
No Thumbnail Available
Date
2011-06-01T00:00:00Z
Authors
Authors
ÖZDEMİR, ÖZTÜRK
SEZGİN, İLHAN
Kurtulgan, Hande Kucuk
CANDAN, FERHAN
Koksal, Binnur
Sumer, Haldun
Icagasioglu, Dilara
Uslu, Atilla
Yildiz, Fazilet
ARSLAN, SULHATTİN
Journal Title
Journal ISSN
Volume Title
Publisher
Metrics
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.
Description
Keywords
Citation
ÖZDEMİR Ö., SEZGİN İ., Kurtulgan H. K. , CANDAN F., Koksal B., Sumer H., Icagasioglu D., Uslu A., Yildiz F., ARSLAN S., et al., -Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers-, MOLECULAR BIOLOGY REPORTS, cilt.38, ss.3195-3200, 2011