Evaluation of the frequency of MEFV gene variants in patients with a pre-diagnosis of Familial Mediterranean Fever (FMF) in southeast Türkiye

Authors : Derya KARAER, Bahtiyar ŞAHİNOĞLU, Abdullah İhsan GÜRLER, Kadri KARAER

Pages : 456-464

Doi:10.31362/patd.1255344

View : 78 | Download : 87

Publication Date : 2023-07-01

Article Type : Research Paper

Abstract :Purpose: Familial Mediterranean Fever insert ignore into journalissuearticles values(FMF); is a hereditary auto inflammatory disease insert ignore into journalissuearticles values(MIM#249100);. The most common symptoms are abdominal pain, high fever, and arthralgia. FMF is the result of variants in the MEditerraneanFeVer insert ignore into journalissuearticles values(MEFV); gene located on chromosome 16p13.3, which contains 10 exons and encodes the pyrin insert ignore into journalissuearticles values(marenostrin); protein. The frequency of MEFV gene variants that cause FMF varies according to ethnic groups, countries and even different regions in the same country. In our study, we aimed to determine the frequency and distribution of MEFV gene changes that cause Familial Mediterranean fever in southeast Türkiye. Materials and methods: A total of 6.660 patients with a pre-diagnosis of FMF, including 3.495 women and 3.165 men, were included in the study. Fragment analysis was performed to investigate the MEFV gene variants of the patients and the 19 most common variants in the Turkish population were examined. Results: We found at least one variant in 50.17% insert ignore into journalissuearticles values(3.341); of our 6.660 patients. In our patients, 108 different genotypes; in Exon 2, 3, 5 and 10 and we identified 16 different variants. We found 2.120 insert ignore into journalissuearticles values(63.21%); patients were heterozygous, 693 insert ignore into journalissuearticles values(20.74%); were compound heterozygotes, 275 insert ignore into journalissuearticles values(8.23%); were homozygous and 261 insert ignore into journalissuearticles values(7.81%); were complex genotypes. The five variants with the highest allele frequency are; R202Q insert ignore into journalissuearticles values(27.84%);, M694V insert ignore into journalissuearticles values(22.83%);, E148Q insert ignore into journalissuearticles values(21.98%);, V726A insert ignore into journalissuearticles values(7.42%);, and M680I insert ignore into journalissuearticles values(G>C); insert ignore into journalissuearticles values(6.39%);. Conclusion: We identified the most common prevalence of MEFV gene alteration in a large patient group in our region. High R202Q mutation rates were among the remarkable results of this study.
Keywords : FMF, MEFV gen varyasyonları, fragman analizi