title: Frequency of alterations in the MEFV gene and  clinical signs in familial Mediterranean fever in Central Anatolia, Turkey.
abstract: Familial Mediterranean fever is a recessive  autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks.  The MEFV gene is responsible for this disease. We looked for MEFV gene  variations (polymorphism and mutations) in a population that resides in Central  Anatolia, Turkey. DNA was extracted from peripheral blood leukocytes of 802  familial Mediterranean fever patients. The DNA sequence data were examined for  approximately 150 different mutations and polymorphisms, including single  nucleotide polymorphisms in different exons of the MEFV gene. The  male:female ratio of these patients was 1.44:1. Mutations were detected in  48.1% of the patients; 7.5% were homozygous, 11.1% were compound heterozygous  and 31.5% had only one identifiable mutant allele. No mutations were detected  in 51.9% of the patients. The main clinical characteristics of the patients  were: abdominal pain in 20.6%, arthritis in 22.9% and amyloidosis in 4.6%.  Sixty-six percent of patients had a family history of familial Mediterranean  fever; 19.4% of the patients were found to have parental consanguinity. We  conclude that the genetics of familial Mediterranean fever is more complex than  has previously been reported; heterozygous patients presenting a severe  phenotype should be further analyzed for less common secondary MEFV mutations,  using gene sequencing.
authors.affiliation: Department of Medical Genetics, Ankara Ataturk Education and Training Hospital, Ankara, Turkey. nil_cey@yahoo.com
authors.forename: G G
authors.initials: GG
authors.lastname: Ceylan
authors.forename: C
authors.initials: C
authors.lastname: Ceylan
authors.forename: E
authors.initials: E
authors.lastname: Ozturk
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071198:Pyrin; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin