Özet:

Objective: Familial Mediterranean Fever is an autosomal recessive autoinflammatory multisystemic genetic disease caused by mutations in the MEFV gene. Although it is a common disease in our country, the type and frequency of mutations that cause the disease vary regionally. In this study, it was aimed to determine the types and frequencies of MEFV gene mutations in patients diagnosed with Familial Mediterranean Fever in our province. Material and Methods: A total of 495 patients referred to our Medical Genetics clinic with a preliminary diagnosis of Familial Mediterranean Fever were included in the study. The findings of the patients who were analyzed for common mutations in the MEFV gene with the Real-Time PCR method were evaluated retrospectively. Results: Mutations in the MEFV gene were detected in 44.4% of the patients included in the study, while no mutations related to the investigated regions were detected in 55.6%. The frequency of the most frequently detected genotypes in terms of percentage were M694V/- (47.40%), V726A/- (15.90%), M680I(C)/- (9.99%) and the frequency of alleles were M694V (52.8%), V726A (16.8%), M680I(C)  (13.6%). Conclusion: The results of the study support the heterogeneity in MEFV gene mutations seen in Familial Mediterranean Fever patients. Although minor differences are observed in the types and frequencies of mutations detected in the MEFV gene, the findings are consistent with the results of other studies conducted in the Turkish population. Current data on the genotype distributions of Familial Mediterranean Fever patients in our city will contribute to the literature.

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