Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system

Abstract

ABSTRACT. The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 patients were analyzed. Genomic DNA from 304 patients was tested for 6 common mutations located in exon 2 (E148Q), and exon 10 (M680I, M694V, M694I, V726A, R761H) by real-time PCR while 1275 patients were tested for 17 mutations located in exon 2 (E148Q), and exon10 [M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, S675N, G678E, M680L, T681I, M694L, K695M, R717S, I720M, V722M] by pyrosequencing. The most frequent mutation was M694V, followed by M680I, E148Q, and V726A. Ten mutations in the panel were not detected in any patients. Finally, we compared our results with those of other centers in Turkey to contribute to the identified spectrum of Turkish MEFV mutations and we discuss which MEFV mutations are informative for evaluating an FMF patient.

The Clinical Significance of R202Q Mutation in the Pyrin Gene

“…Our results were found to be compatible with the results of other studies conducted in various regions of Turkey. [13][14][15][16] Out of 65 patients with the combination of other frequent mutations, 30 of these patients also showed R202Q mutation. Furthermore, out of these 65 patients, 37 individuals were detected to carry the M694V mutation with the highest ratio (56.92% The same results were also valid for other common mutations.…”

Near East University Genetic Mutation Database (NEU-GD): The first mutation database of Northern Cyprus

“…As an example, Table 1 shows the allele frequencies of some SNPs (rs224222, rs3743930, rs28940580) that might play a role in the development of FMF (Zamani et al, 2013;Abedi et al, 2013;Cetin et al, 2014;Deniz et al, 2014). According to HapMap (http://hapmap.ncbi.nlm.nih.gov/) and dbSNP data (http://www.ncbi.nlm.nih.gov/SNP/), our primary results showed that the allele frequencies of specific mutations for FMF are different frequencies in CEPH (The Centre de'Etude du Polymorphism Humain) and CEU (Utah residents with Northern and Western European ancestry from the CEPH collection).…”