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

Purpose: Familial Mediterranean Fever (FMF) is a hereditary auto inflammatory disease (MIM#249100). The most common symptoms are high fever, abdominal pain and arthralgia. FMF the result of variations in MEditerraneanFeVer (MEFV) gene, which located on chromosome 16p13.3, consists 10 exons encodes pyrin (marenostrin) protein. frequency MEFV gene variants that cause varies according to ethnic groups, countries even different regions same country. In this study, we aimed determine distribution alterations fever southeastern Turkey.
 Materials Methods: A total 6,660 patients with prediagnosis FMF, including 3,495 women 3,165 men, were included study. Fragment analysis was performed investigate 19 Turkish population examined.
 Results: We found at least one variation 50.17% (3,341) our patients. patients, 108 genotypes; Exon 2, 3, 5 identified 16 variations. 2,120 (63.21%) heterozygous, 693 (20.74%) compound heterozygotes, 275 (8.23%) homozygous 261 (7.81%) complex genotypes. highest allele respectively; R202Q (27.84%), M694V (22.83%), E148Q (21.98%), V726A (7.42%), M680I(G>C) (6.39%).
 Conclusion: prevalence alteration large patient group region. High mutation rates among remarkable results