TY  - JOUR
T1  - BÖLGEMİZDEKİ AİLESEL AKDENİZ ATEŞİ HASTALARININ MEFV GEN MUTASYON TİPLERİNİN SIKLIĞI
TT  - The Frequency of MEFV Gene Mutations for Familial Mediterranean Fever
AU  - Bayrak, Muharrem
AU  - Çadırcı, Kenan
AU  - Yaralı, Oğuzhan
PY  - 2019
DA  - August
DO  - 10.24938/kutfd.548831
JF  - The Journal of Kırıkkale University Faculty of Medicine
JO  - Kırıkkale Uni Med J
PB  - Kırıkkale Üniversitesi
WT  - DergiPark
SN  - 2148-9645
SP  - 254
EP  - 260
VL  - 21
IS  - 2
LA  - tr
AB  - Amaç: Ailesel Akdeniz ateşi otozomal resesifgeçen ve MEFV genindeki mutasyonların yol açtığı genetik bir hastalıktır.Bölgemizde sık görülen genetik bir hastalık olması ve mutasyonlarla ilgiliepidemiyolojik verilerin az olması nedeniyle ailesel Akdeniz ateşi vakalarında,MEFV mutasyonlarının tiplerinin ve sıklığının belirlenmesi amaçlandı.Gereç ve Yöntemler:Çalışmaya 212 MEFVmutasyonu saptanmış hasta dâhil edildi. Hastaların verileri retrospektif olaraktarandı. MEFV mutasyon analizi Next Generation Sequence yöntemi ile yapıldı.Bulgular: Çalışmahastalarının 116 (%54.71)’ı kadın ve 96 (%45.29)’ı erkekti. En sık saptananMEFV mutasyonu M694V (%34.9) idi. E148Q (%26), V726A (%16) ve M68OI (%8.3)diğer sık saptanan mutasyon tipleriydi. MEFV mutasyonu saptanan hastalarıncinsiyetlere göre dağılımları incelendiğinde; erkeklerde M694V, E148Q, V726A,M68OI ve R761H mutasyonları, kadınlarda ise M694V, E148Q, V726A, M68OI ve P369Smutasyonlarının daha sık olduğu izlendi.Sonuç: MEFVmutasyon tiplerinin sıklığını belirlemek amacıyla yapılan çalışmamızda aileviAkdeniz ateşi hastalığının bazı bölgelerde yüksek oranda gözlendiği ve bufarklı oranların toplumlar arasında farklılıklara yol açabileceğigösterilmiştir. MEFV mutasyon tiplerinin sıklığının bölgeden bölgeye vepopülasyondan popülasyona değişebileceğini düşünüyoruz. Bu nedenle, değişennüfus ve komşu ülkelerin istikrarsızlığı nedeniyle, bölgemizde ve ülkemizdeMEFV mutasyon tiplerinin sıklığını belirlemeye yönelik geniş nüfus temelliçalışmalar yapılmalıdır.
KW  - Ailesel Akdeniz Ateşi
KW  - mutasyon
KW  - MEFV gen
N2  - Objective: Familial mediterranean fever is anautosomal recessive genetic disease caused by mutations in the MEFV genes. Itwas aimed to determine the types and frequency of MEFV mutations in Familialmediterrenean fever cases due to the fact that there is a common geneticdisease in our region and a low epidemiological data related to the mutations.Material and Methods: Atotal of 212 FMF patients with MEFV mutations wereincluded in the study. The data of the patients were retrospectively reviewed. The MEFV mutation analyses wereperformed using the NextGeneration Sequence method.Results: Of thesepatients, 116 (54.71%) were female and 96(45.29%) were male. M694V (34.9%) was the most common mutation type, E148Q (26%), V726A (16%), M68OI (8.3%)were the other common mutation types. When the distribution of patientswith MEFV mutation was examined according togender, it was observed that M694V, E148Q, V726A, M68OI, and R761H mutationswere more frequent in men while M694V, E148Q, V726A, M68OI, and P369S mutations weremore frequent in women.Conclusion: In our study which was conducted to determinethe frequency of MEFV mutation types, it has been shown that familialMediterranean fever disease is observed in a high rate in some regions and ithas also shown that these different rates can lead to differences betweensocieties. We think that the frequency ofMEFV mutation types may change from region to region and from populationto population. Therefore, because of changing population and the instability ofneighboring countries, large population-based studies aimed to determine thefrequency of MEFV mutation types should be made due to the in our region and inour country.
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UR  - https://doi.org/10.24938/kutfd.548831
L1  - https://dergipark.org.tr/tr/download/article-file/784257
ER  -