Özet:

Purpose: Family Mediterranean Fever (AAA) is an autoinflammatory disease that is common in Mediterranean populations.Mutations in the MEFV gen are found to be the basis for the development of the FMF.Therefore, in this study, we aimed at investigating the possible differences in the new generation of sequencing and polymerase chain reaction methods in the detection of MEFV mutations.Tools and methods: This study was carried out on samples collected between 01.08.2018 and 12.03.2020 at the Department of Medical Genetic Anatomy of the Pamukkale University Hospital.MEFV mutation analyses have been made using the new-generation settlement and polymerase chain reaction methods.The analysis of the MEFV variants identified as a result of the new generation’s ranking analysis has been used by the Sophia DDM 5.2.1 platform.® Results: MEFV mutation analysis was performed on 341 FMF pre-diagnosed patients. According to the results of polymerase chain reaction, 227 patients (227/341) did not detect any MEFV mutations, while 114 patients did not detect only one heterozigot mutation. The most frequently identified variants were M694V (46/341), E148Q (45/341), M680I (12/341), V726A (6/341) and P369S (5/341) respectively. In addition, new mutations have been detected in 41 patients, unlike the analysis of polymerase chain reactions. Results: The results of the current study show that NGS analysis enables the effective detection of rare MEFV variants as well as MEFV variants frequently observed in FMF patients. In summary, we recommend that doctors do comprehensive molecular tests, such as the next-generation classification, to determine the relationship of molecular diagnosis and genetic test results with the progression of the disease.

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