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ABS TRACT Ob jec ti ve: Fa mi li al Me di ter ra ne an fe ver (FMF) is a he re di tary inf lam ma tory di se a se cha rac te ri zed by re cur rent at tacks of fe ver and se ro si tis. FMF is ca u sed by mu ta ti ons in the pro te in of MEFV ge ne (ma re nos trin). So far 152 mu ta ti ons and poly morp hisms ha ve be en iden ti fi ed. The fi ve most com mon mu ta ti ons are M694V, M680I, M694I, E148Q, and V726A, most of which are cluste red on exon 10 and the se mu ta ti ons ac co unt for 74% FMF mu ta ti ons among Jews, Turks, Arabs and Ar me ni ans. In this ret ros pec ti ve study, we ai med to in ves ti ga te the spec trum of 12 MEFV mu ta ti ons and ge noty pes among Tur kish FMF pa ti ents re fer red from Me di cal Ge ne tics De part ment at An ka ra Ata turk Edu ca ti on and Tra i ning Hos pi tal lo ca ted in the cen tral re gi on of Tur key. Ma te ri al and Met hods: We per for med re ver se hybri di za ti on (RH) met hod for de tec ting MEFV ge ne mu ta ti ons. Results: We de tec ted dif fe rent ge noty pes in 288 (54%) of 532 ca ses by RH. Forty-six of the ca ses we re ho mozy go te for one mu ta ti on, 155 we re he te rozy go te, 87 we re com po und he te rozy go te for two diffe rent mu ta ti ons. No mu ta ti on was de tec ted in the re ma i ning 244 (46%) ca ses. The most frequent mu ta ti ons were M694V, fol lo wed by E148Q, M680I(G/C) and V726A. Conc lu si on: Sin ce FMF is an im por tant di se a se be ca u se of its comp li ca ti ons, ge ne tic tests must be per for med for the pa ti ents with FMF cri te ri a and cli ni ci ans ha ve to be mo re ca re ful abo ut this di se a se.

MEFV Gene Mutations in a Sample of Turkish Population: A Retrospective Study