Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers
| Autor: | Selma Cetinkaya, Ilhan Sezgin, Zekeriya Öztemur, Haldun Sümer, Dilara İçağasıoğlu, Ferhan Candan, Atilla Uslu, Şenol Çitli, Mansur Kayataş, Binnur Koksal, Fazilet Yildiz, Sulhattin Arslan, Hande Küçük Kurtulgan, Öztürk Özdemir |
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| Přispěvatelé: | [Ozdemir, Ozturk -- Sezgin, Ilhan -- Kurtulgan, Hande Kucuk -- Koksal, Binnur -- Yildiz, Fazilet -- Citli, Senol] Cumhuriyet Univ, Dept Med Genet, Fac Med, TR-58140 Sivas, Turkey -- [Ozdemir, Ozturk] COMU Univ, Dept Med Genet, Fac Med, TR-17100 Canakkale, Turkey -- [Candan, Ferhan] Cumhuriyet Univ, Dept Interior Med, Fac Med, TR-58140 Sivas, Turkey -- [Sumer, Haldun -- Cetinkaya, Selma] Cumhuriyet Univ, Dept Publ Hlth, Fac Med, TR-58140 Sivas, Turkey -- [Icagasioglu, Dilara] Cumhuriyet Univ, Dept Pediat, Fac Med, TR-58140 Sivas, Turkey -- [Uslu, Atilla] Istanbul Univ, Dept Physiol, Fac Med, TR-34039 Istanbul, Turkey -- [Arslan, Sulhattin] Cumhuriyet Univ, Dept Thorax Dis, Fac Med, TR-58140 Sivas, Turkey -- [Oztemur, Zekeriya] Cumhuriyet Univ, Dept Ortopedia, Fac Med, TR-58140 Sivas, Turkey -- [Kayatas, Mansur] Cumhuriyet Univ, Dept Nephrol, Fac Med, TR-58140 Sivas, Turkey, Kurtulgan, Hande Kucuk -- 0000-0001-9172-3244, Oztemur, Zekeriya -- 0000-0003-2134-8797, İÇAĞASIOĞLU, DİLARA FÜSUN |
| Rok vydání: | 2010 |
| Předmět: |
Adult
Male medicine.medical_specialty Sivas population Adolescent Genotype Turkey Familial Mediterranean fever Gene mutation medicine.disease_cause Gastroenterology Young Adult FMF Gene Frequency Internal medicine Ethnicity Genetics Humans Medicine Mutation frequency Child Molecular Biology Allele frequency Aged Mutation business.industry Allelic frequencies General Medicine Middle Aged Pyrin medicine.disease MEFV Familial Mediterranean Fever Cytoskeletal Proteins Child Preschool Carrier State Population study Female business |
| Zdroj: | Molecular Biology Reports. 38:3195-3200 |
| ISSN: | 1573-4978 0301-4851 |
| DOI: | 10.1007/s11033-010-9991-7 |
| Popis: | WOS: 000290102100044 PubMed ID: 20165923 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. |
| Databáze: | OpenAIRE |
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