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Ozet Amac. Mycobacterium tuberculosis enfeksiyonu dunya uzerinde ciddi bir halk sagligi sorunudur. T-helper 1 hucreleri tuberkuloz patogenezinde onemli bir rol oynamaktadir. Ailesel Akdeniz Atesi (FMF) hastalari ve tasiyicilarinda T-helper 1’in artmis aktivitesi soz konusudur. Bu calismayi, bagisiklik temelinde, MEFV gen mutasyonlariyla tuberkuloza karsi direnc arasinda olasi iliskiyi degerlendirmek uzere yaptik. Yontem. Bu calisma 2007-2009 yillari arasinda Cumhuriyet Universitesi Tip Fakultesi Gogus Hastaliklari Anabilim Dali’na basvuran ve fizik muayene, mikrobiyolojik ve radyolojik tetkiklerle tuberkuloz tanisi alan 51 hasta (23 kadin, 28 erkek) ve 57 kisilik kontrol grubuyla (26 kadin, 31 erkek) gerceklestirilmistir. Her iki grupta revers hibridizasyon FMF Strip Assay (ViennaLab Labordiagnostika, Vienna, Austria) teknigi kullanilarak 12 yaygin MEFV gen mutasyonu arastirilmistir. Bulgular. MEFV mutasyonlarinin dagilimi acisindan hasta ve kontrol gruplari arasinda onemli bir fark saptanmamistir (p>0,05). Hasta grubunda 22 MEFV gen mutasyonu (%43,1) vardi. Homozigot mutasyon tespit edilmedi. Hasta grubundaki mutasyonlarin tamami heterozigottu. Kontrol grubunda da homozigot mutasyona rastlanmazken, toplam 29 (%50,8) heterozigot mutasyona rastlandi. Sonuc. Elde edilen veriler tuberkuloz hastalarinda MEFV geni mutasyon sikliginin saglikli populasyona oranla onemli bir farklilik gostermedigini dusundurmektedir. FMF mutasyonlari tuberkuloza yakalanmakta degil ama hastaligin seyrinde etkili olabilir. Anahtar sozcukler: FMF, tuberkuloz, MEFV geni, mutasyon Abstract Aim. Mycobacterium tuberculosis infection is a critical public health problem all over the world. T-helper 1 cells play an important role in the pathogenesis of tuberculosis. There is an increased activity of T-helper 1 in Familial Mediterranean Fever (FMF) patients and carriers. Based on immunity, we undertaken this study to evaluate a possible association of MEFV gene mutations with resistance to tuberculosis. Method. This study was performed with 51 patients (23 females, 28 males) applied to Cumhuriyet University Medical Faculty Chest Diseases Department between 2007 and 2009 and diagnosed with tuberculosis by physical examination, microbiological and radiologic analysis and 57 controls (26 females, 31 males). In these groups, 12 common MEFV gene mutations were researched using revers hybridisation FMF Strip Assay (ViennaLab Labordiagnostika, Vienna, Austria) technique. Results. A significant difference was not detected between patient and control groups in terms of distribution of MEFV mutations (p>0.05). There were 22 MEFV gene mutations (%43.1) in patient group. Homozygous mutation was not detected in this group. All mutations in patient group were heterozygous. There was also no homozygous mutation in control group and total 29 (%50.8) heterozygous mutations were detected. Conclusion. Our results suggested that the mutation frequency of MEFV gene in tuberculosis patients was not significantly different from healthy population. FMF mutations may effect the survive of tuberculosis but not sicken. Keywords: FMF, tuberculosis, MEFV gene, mutation

MEFV gen mutasyonlarının tüberküloza direnç ile olası ilişkisi