ArticleMolecular biology reports2014
The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.
Article in Molecular biology reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Molecular analyses of MEFV gene mutation variants in Turkish population.Molecular biology reports · 2024Article
- Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.Molecular biology reports · 2021Article
- Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever.Rheumatology international · 2021Observational
- A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.Molecular biology reports · 2020Article
- The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey.The Eurasian journal of medicine · 2019Article
- The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of AnatoliaTurkish journal of medical sciences · 2019Article
- Exon 2: Is it the good police in familial mediterranean fever?European journal of rheumatology · 2019Article
- Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation.Pediatric rheumatology online journal · 2016Article
- Screening of the most common MEFV variants in 416 patients of familial mediterranean fever living in Northwest of Iran.Journal of advanced pharmaceutical technology & researchArticle
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Authors and funding
4 authors.
Funding
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Abstract
In this study we have retrospectively analysed the mutation spectrum of the 351 Familial Mediterranean fever patients referred to Kırıkkale University Faculty of Medicine, Department of Medical Genetics Laboratory over a period of 5 years and compared them with Turkey's mean. We have found 11 different mutations, including rare mutations such as F479L, K695R, M680I(G/A) and 45 different genotypes showing the heterogeneity of MEFV mutations in Central Anatolia. The most three prevalent mutations were M694V (14.8%), E148Q (7.1%) and M680I(G/C) (4.1%) in accordance with the literature. We have also investigated R202Q in our routine molecular diagnosis. Mutation causing R202Q (c.605G > A) change was described as a frequent polymorphism and G allele was found in linkage disequilibrium (LD) with M694V. There are limited number of studies investigating R202Q, some of them implicate that its homozygote state is disease causing. We showed the high frequency of R202Q (23.7%) with and without M694V in all the groups analysed and its high LD rate with M694V in the diagnosed group. Our study is reflecting the mutational heterogeneity of MEFV and summarize mutational spectrum of Turkey's geographical regions and overall Turkey.
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