Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.
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.
Ozdemir
Oztürk
O
Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, 58140 Sivas, Turkey. ozdemiro@cumhuriyet.edu.tr
Sezgin
Ilhan
I
Kurtulgan
Hande Kucuk
HK
Candan
Ferhan
F
Koksal
Binnur
B
Sumer
Haldun
H
Icagasioglu
Dilara
D
Uslu
Atilla
A
Yildiz
Fazilet
F
Arslan
Sulhattin
S
Cetinkaya
Selma
S
Citli
Senol
S
Oztemur
Zekeriya
Z
Kayatas
Mansur
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D002353:Carrier State; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071198:Pyrin; D014421:Turkey / Q000453:epidemiology / Q000208:ethnology; D055815:Young Adult
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin