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dc.contributor.authorCitli, Senol
dc.contributor.authorUslu, Atilla
dc.contributor.authorCetinkaya, Selma
dc.contributor.authorOztemur, Zekeriya
dc.contributor.authorKayatas, Mansur
dc.contributor.authorOzdemir, Ozturk
dc.contributor.authorSezgin, İlhan
dc.contributor.authorKucuk Kurtulgan, Hande
dc.contributor.authorCandan, Ferhan
dc.contributor.authorKoksal, Binnur
dc.contributor.authorSumer, Haldun
dc.contributor.authorIcagasioglu, Dilara
dc.contributor.authorYildiz, Fazilet
dc.contributor.authorArslan, Sulhattin
dc.date.accessioned2021-03-03T18:38:51Z
dc.date.available2021-03-03T18:38:51Z
dc.identifier.citationOzdemir O., Sezgin İ., Kucuk Kurtulgan H., 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
dc.identifier.issn0301-4851
dc.identifier.othervv_1032021
dc.identifier.otherav_5036fdd8-9246-4175-980e-25ba6e7ee131
dc.identifier.urihttp://hdl.handle.net/20.500.12627/57137
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/5036fdd8-9246-4175-980e-25ba6e7ee131/file
dc.identifier.urihttps://doi.org/10.1007/s11033-010-9991-7
dc.description.abstractThe 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.
dc.language.isoeng
dc.subjectYaşam Bilimleri
dc.subjectSitogenetik
dc.subjectTemel Bilimler
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.subjectMoleküler Biyoloji ve Genetik
dc.titlePrevalence of known mutations in the MEFV gene in a population screening with high rate of carriers
dc.typeMakale
dc.relation.journalMOLECULAR BIOLOGY REPORTS
dc.contributor.departmentSivas Cumhuriyet Üniversitesi , Tıp Eğitimi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume38
dc.identifier.startpage3195
dc.identifier.endpage3200
dc.contributor.firstauthorID805321


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