Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation
| Autor: | Yilmaz E., Dinçel N., Sözeri B., Özdemir K., Kaplan Bulut İ., Berdeli A., Mir M.S. |
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| Přispěvatelé: | Ege Üniversitesi |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Male
Heterozygote Turkey phenotype genotype ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS Homozygote MEFV Sequence Analysis DNA General Medicine Pyrin Children familial Mediterranean fever MEFV genotype phenotype Polymorphism Single Nucleotide ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS Cytoskeletal Proteins ComputingMethodologies_PATTERNRECOGNITION familial Mediterranean fever Child Preschool Mutation Humans Female InformationSystems_MISCELLANEOUS Children Retrospective Studies Cerrahi |
| Zdroj: | Volume: 45, Issue: 6 1198-1206 Turkish Journal of Medical Sciences |
| ISSN: | 1300-0144 1303-6165 |
| Popis: | WOS: 000365510300003 PubMed ID: 26775371 Background/aim: Familial Mediterranean fever (FMF) is diagnosed by fever episodes with sterile peritonitis, arthritis, pleurisy, and erysipelas-like erythema. The relationship between phenotype and genotype in FMF has not been adequately explained. The aim of this study was to characterize the phenotype and genotype correlation in FMF. Materials and methods: Clinical diagnosis of FMF was conducted according to the Tel Hashomer criteria. Pras scoring was used to determine clinical severity. FMF strip assay analysis was used, and the hotspot regions were observed with PCR amplification and automatic DNA sequence analysis method. Results: We showed commonly seen mutations (most frequently M694V) in a study group of 191 patients. The disease severity score of patients with M694V mutation was high on the Pras scoring system. Patients with M694V mutation needed high colchicine dosages to control disease activity. R202Q was the most commonly seen polymorphism in 70 patients. The coexpression of R314R single nucleotide polymorphism on third exon was shown in our study. Moreover, D102D, G138G, and A165A subhaplotypes and E474E, Q476Q, and D510D subhaplotypes were also shown. Conclusion: DNA sequence analysis should be a commonly used method for progress in the field of molecular genetics and for the better understanding of the FMF phenotype and genotype relationships in all populations. |
| Databáze: | OpenAIRE |
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