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Dergiler / Turkish Journal of Medical Sciences / 2015 / Cilt: 45 - Sayı: 6

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

Nida DİNÇEL
Afig BERDELİ
Betül SÖZERİ
Ebru YILMAZ
İpek BULUT KAPLAN
Kadriye ÖZDEMİR
Makbule Sevgi MİR
Sayfa
1198–1206
Yayın Tarihi
2022-11-05
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Conclusion: DNA sequence analysis should be a commonly used method for progress in the field of molecular genetics and for thebetter understanding of the FMF phenotype and genotype relationships in all populations.

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Amaç & Hipotez:Background/aim: Familial Mediterranean fever (FMF) is diagnosed by fever episodes with sterile peritonitis, arthritis, pleurisy, anderysipelas-like erythema.
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Temel Bulgular & Veri:Results: We showed commonly seen mutations (most frequently M694V) in a study group of 191 patients.
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Sonuç & Katkı:Conclusion: DNA sequence analysis should be a commonly used method for progress in the field of molecular genetics and for thebetter understanding of the FMF phenotype and genotype relationships in all populations.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Background/aim: Familial Mediterranean fever (FMF) is diagnosed by fever episodes with sterile peritonitis, arthritis, pleurisy, anderysipelas-like erythema. The relationship between phenotype and genotype in FMF has not been adequately explained. The aim of thisstudy 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 todetermine clinical severity. FMF strip assay analysis was used, and the hotspot regions were observed with PCR amplification andautomatic DNA sequence analysis method. Results: We showed commonly seen mutations (most frequently M694V) in a study group of 191 patients. The disease severity score ofpatients with M694V mutation was high on the Pras scoring system. Patients with M694V mutation needed high colchicine dosages tocontrol disease activity. R202Q was the most commonly seen polymorphism in 70 patients. The coexpression of R314R single nucleotidepolymorphism on third exon was shown in our study. Moreover, D102D, G138G, and A165A subhaplotypes and E474E, Q476Q, andD510D subhaplotypes were also shown. Conclusion: DNA sequence analysis should be a commonly used method for progress in the field of molecular genetics and for thebetter understanding of the FMF phenotype and genotype relationships in all populations.

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Bu Makaleye Atıf Yap

DİNÇEL, N., BERDELİ, A., SÖZERİ, B., YILMAZ, E., KAPLAN, İ. B., ÖZDEMİR, K., MİR, M. S. (2022). Familial Mediterranean fever in children from the Aegean region of Turkey: gene mutation frequencies and phenotype genotype correlation. Turkish Journal of Medical Sciences, Cilt: 45 - Sayı: 6, 1198–1206. https://ajindex.com/articles/610904

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Kaynakça (13)

  1. Heller H, Sohar E, Pras M. Ethnic distribution and amyloidosis in familial Mediterranean fever (FMF). Pathol Microbiol 1961; 24: 718–723
  2. Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM, Barron KS, Holland SM, Kastner DL, Aksentijevich A. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum 2009; 60: 1851–1861
  3. Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 2001; 9: 473–483
  4. Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, Yalçinkaya F, Özen S, Majeed H, Ozdogan H et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum 2007; 56: 1706– 1712
  5. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40: 1879–1885
  6. Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med 1967; 43: 227–253
  7. Berdeli A, Mir S, Nalbantoglu S, Kutukculer N, Sozeri B, Kabasakal Y, Cam S, Solak M. Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a “heterozygote advantage” in Turkey? Genet Test Mol Biomarkers 2011; 15: 475–482
  8. Pras E, Livneh A, Balow JE Jr, Pras E, Kastner DL, Pras M, Langevitz P. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet 1998; 75: 216–219
  9. Shinar Y, Livneh A, Langevitz P, Zaks N, Aksentijevich I, Koziol DE, Kastner DL, Pras M, Pras E. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J Rheumatol 2000; 27: 1703–1707
  10. Dewalle M, Domingo C, Rozenbaum M, Ben-Chétrit E, Cattan D, Bernot A, Dross C, Dupont M, Notarnicola C, Levy M et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet 1998; 6: 95–97
  11. Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthritis Rheum 2009; 61: 1447–1453
  12. Ureten K, Gönülalan G, Akbal E, Güneş F, Akyürek O, Ozbek M, Oztürk MA. Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia. Rheumatol Int 2010; 30: 911–915
  13. Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, Saatci U, Bakkaloglu A, Ozguc M. Mutation