HAKAN GÜRKAN, Neşe Emine ÖZKAYIN, KIYMET TABAKÇIOĞLU, Çetin ALGÜNEŞ

Trakya populasyonundaki ailevi akdeniz ateşi hastalarında MEFV geni ekson 2 ve ekson 10 gen bölgesi mutasyonları

Amaç: Çalışmamızın amacı Trakya populasyonunda Ailevi Akdeniz Ateşi etyopatogenezinde yer alan MEFV geni ekson 2 ve ekson 10 gen bölgesi mutasyonlarının otomatize DNA dizi analizi metodu ile araştırılarak elde edilen sonuçların literatürdeki diğer çalışmalar ile karşılaştırılmasıdır. Hastalar ve Yöntemler: Çalışmaya Ailevi Akdeniz Ateşi tanılı hastalardan, birbirileri ile akrabalık ilişkisi bulunmayan, aynı karakteristik dil özellikleri gösteren ve en az üç kuşaktır Trakya Bölgesi'nde yaşayanlar (34 kadın, 34 erkek) dahil edildi. MEFV geni ekson 2 ve ekson 10 gen bölgeleri polimeraz zincir tepkimesi ile çoğaltılarak, otomatize DNA dizi analizi metodu ile nükleotid dizileri belirlendi. Bulgular: Trakya populasyonunda MEFV geni ekson 2 gen bölgesinde G442C, T306C, A414G, C495A, G605A, ekson 10 gen bölgesinde G2040C, A2080G, G2082A, A2084G, T2177C, G2282A tek nükleotid değişimleri belirlendi. Sonuç: Çalışmamızın sonuçları MEFV geni ekson 2 gen bölgesinde belirlediğimiz T306C, A414G, C495A, G605 tek nükleotid değişiklikleri ve ekson 10 gen bölgesinde belirlediğimiz mutasyonların sıklıkları açısından literatür ile farklılıklar göstermektedir.

MEFV gene exon 2 and exon 10 gene region mutations of familial mediterranean fever patients in Trakya population

Objectives: The objective of the study is to explore the MEFV gene exon 2 and exon 10 gene region mutations which take place in etiopathogenesis of Familial Mediterranean Fever in the Thrace population with the DNA sequence analysis method and to compare the results with the other studies. Patients and Methods: The study included patients with Familial Mediterranean Fever who have no relative relationship, have the same linguistic characteristic and live in the Thrace region for at least three generations (34 females, 34 males). MEFV gene exon 2 and exon 10 gene regions multiplied with PCR and their nucleotids were determined with the DNA sequence analysis method. Results: G442C, T306C, A414G, C495A, G605A SNPs were found in MEFV gene exon 2 gene region and G2040C, A2080G, G2082A, A2084G, T2177C, G2282A SNPs were found in MEFV gene exon 10 gene region in the Thrace population. Conclusion: The T306C, A414G, C495A, G605 single-nucleotide polymorphisms in MEFV gene exon 2 gene region and the mutations in exon 10 gene region are not compatible in terms of their frequencies with the results of the other studies.

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