Year 2015, Volume 45, Issue 6, Pages 1198 - 1206 2015-12-04

Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation
Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation

EBRU YILMAZ [1] , NİDA DİNÇEL [2] , BETÜL SÖZERİ [3] , KADRİYE ÖZDEMİR [4] , İPEK KAPLAN BULUT [5] , AFIG BERDELI [6] , MAKBULE SEVGİ MİR [7]

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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.
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.
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Subjects
Journal Section Articles
Authors

Author: EBRU YILMAZ

Author: NİDA DİNÇEL

Author: BETÜL SÖZERİ

Author: KADRİYE ÖZDEMİR

Author: İPEK KAPLAN BULUT

Author: AFIG BERDELI

Author: MAKBULE SEVGİ MİR

Bibtex @ { tbtkmedical149000, journal = {Turkish Journal of Medical Sciences}, issn = {1300-0144}, eissn = {1303-6165}, address = {TUBITAK}, year = {2015}, volume = {45}, pages = {1198 - 1206}, doi = {}, title = {Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation}, key = {cite}, author = {YILMAZ, EBRU and DİNÇEL, NİDA and SÖZERİ, BETÜL and ÖZDEMİR, KADRİYE and BULUT, İPEK KAPLAN and BERDELI, AFIG and MİR, MAKBULE SEVGİ} }
APA YILMAZ, E , DİNÇEL, N , SÖZERİ, B , ÖZDEMİR, K , BULUT, İ , BERDELI, A , MİR, M . (2015). Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation. Turkish Journal of Medical Sciences, 45 (6), 1198-1206. Retrieved from http://dergipark.gov.tr/tbtkmedical/issue/12391/149000
MLA YILMAZ, E , DİNÇEL, N , SÖZERİ, B , ÖZDEMİR, K , BULUT, İ , BERDELI, A , MİR, M . "Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation". Turkish Journal of Medical Sciences 45 (2015): 1198-1206 <http://dergipark.gov.tr/tbtkmedical/issue/12391/149000>
Chicago YILMAZ, E , DİNÇEL, N , SÖZERİ, B , ÖZDEMİR, K , BULUT, İ , BERDELI, A , MİR, M . "Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation". Turkish Journal of Medical Sciences 45 (2015): 1198-1206
RIS TY - JOUR T1 - Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation AU - EBRU YILMAZ , NİDA DİNÇEL , BETÜL SÖZERİ , KADRİYE ÖZDEMİR , İPEK KAPLAN BULUT , AFIG BERDELI , MAKBULE SEVGİ MİR Y1 - 2015 PY - 2015 N1 - DO - T2 - Turkish Journal of Medical Sciences JF - Journal JO - JOR SP - 1198 EP - 1206 VL - 45 IS - 6 SN - 1300-0144-1303-6165 M3 - UR - Y2 - 2019 ER -
EndNote %0 Turkish Journal of Medical Sciences Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation %A EBRU YILMAZ , NİDA DİNÇEL , BETÜL SÖZERİ , KADRİYE ÖZDEMİR , İPEK KAPLAN BULUT , AFIG BERDELI , MAKBULE SEVGİ MİR %T Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation %D 2015 %J Turkish Journal of Medical Sciences %P 1300-0144-1303-6165 %V 45 %N 6 %R %U
ISNAD YILMAZ, EBRU , DİNÇEL, NİDA , SÖZERİ, BETÜL , ÖZDEMİR, KADRİYE , BULUT, İPEK KAPLAN , BERDELI, AFIG , MİR, MAKBULE SEVGİ . "Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype?genotype correlation". Turkish Journal of Medical Sciences 45 / 6 (December 2015): 1198-1206.