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

Ebru YILMAZ; NİDA DİNÇEL; Betül SÖZERİ; KADRİYE ÖZDEMİR; İpek Kaplan BULUT; Afig BERDELI; MAKBULE SEVGİ MİR

Makale detayları

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

Yazarlar:

Ebru YILMAZ | NİDA DİNÇEL | Betül SÖZERİ | KADRİYE ÖZDEMİR | İpek Kaplan BULUT | Afig BERDELI | MAKBULE SEVGİ MİR

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 6, pp.1198-1206

Belge Tipi:

Makale

Yayın Tarihi:

12/2015

Belge Dili:

Türkçe

Document ID (Org No.):

2000752377

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Anahtar kelimeler:

Özet:

 

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.

Makale detayları

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

Yazarlar:

Ebru YILMAZ | NİDA DİNÇEL | Betül SÖZERİ | KADRİYE ÖZDEMİR | İpek Kaplan BULUT | Afig BERDELI | MAKBULE SEVGİ MİR

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 6, pp.1198-1206

Belge Tipi:

Makale

Yayın Tarihi:

12/2015

Belge Dili:

Türkçe

Document ID (Org No.):

2000752377

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Children

familial Mediterranean fever

MEFV

genotype

phenotype

Sayı

Makale detayları

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

Yazarlar: Ebru YILMAZ | NİDA DİNÇEL | Betül SÖZERİ | KADRİYE ÖZDEMİR | İpek Kaplan BULUT | Afig BERDELI | MAKBULE SEVGİ MİR

Yayıncı: TUBITAK

Dergi: Turkish Journal of Medical Sciences 2015 Vol.45 Issue 6, pp.1198-1206

Belge Tipi: Makale

Yayın Tarihi: 12/2015

Belge Dili: Türkçe

Document ID (Org No.): 2000752377

Sıklık: İki Aylık

eISSN: 1303-6165

pISSN: 1300-0144

Children

familial Mediterranean fever

MEFV

genotype

phenotype

Sayı

Yazarlar:

Ebru YILMAZ | NİDA DİNÇEL | Betül SÖZERİ | KADRİYE ÖZDEMİR | İpek Kaplan BULUT | Afig BERDELI | MAKBULE SEVGİ MİR

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 6, pp.1198-1206

Belge Tipi:

Makale

Yayın Tarihi:

12/2015

Belge Dili:

Türkçe

Document ID (Org No.):

2000752377

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144