Dilara Fatma AKIN, Ahmet Emin KÜREKÇİ, MEHMET NEJAT AKAR

Çocukluk Çağı Akut Lenfoblastik Lösemili Hastalarda RFC G80A Polimorfizmi ve MTHFR Polimorfizmleri ile İlişkilendirilmesi

Amaç: Folat metabolik yolağı nükleotid sentezi ve DNA metilasyonu için gerekli olduğundan lösemi gelişimde önemli rol oynamaktadır. Folat eksikliği, DNA kırıklarına sebep olmaktadır. Bu yüzden folatla ilişkili polimorfizmler, çocukluk çağı akut lenfoblastik lösemisine (ALL) neden olabilmektedir. MTHFR (Metilentetrahidrofolat Redüktaz), DHFR (Dehidrofolat Redüktaz), CBS (Sistationin Beta Sentaz), TYMS (Timidilat Sentaz) ve RFC (Reduces Factor Carrier-1) bulunan değişimler, folat seviyesi ve DNA sentezini etkilediğinden dolayı, folat yolağında önemli role sahiptirler. Bu çalışmadaki amacımız, folat metabolik yolağı ile ilişkili olan RFC ve MTHFR genlerdeki polimorfizimlerin çocukluk çağı lösemisi üzerinde etkisi olup olmadığını araştırmaktır.Materyal ve Metod: Çalışmaya Lösante Çocuk ve Yetişkin hastanesinde 103 akut lenfoblastik lösemi tanısı almış çocuk hasta dâhil edildi. RFC geni G80A ve MTHFR geni polimorfizmleri genotipleme işlemi RFLP (Restriction Fragment Length Polymorphism) ve Real Time PCR yöntemleri ile gerçekleştirildi.Bulgular: Genotip ve allel frekanslarının sonuçlarına göre, hasta ve kontrol grubu arasında herhangi bir istatistiksel farklılık görülmemiştir. RFC G80A ve MTHFR polimorfizmleri birlikteliği, ANOVA testi ile yapılan analiz sonucu istatistiksel olarak anlamlı bulunamamıştır (p> 0,05). Sonuçlar Çalışmamız, Türk çocukluk çağı ALL hastalarında, RFC ve MTHFR polimorfizmlerle lösemi patogenezi arasındaki ilişkiyi tanımlayan ve frekansını tespit eden ilk tarama sonuçları olmasından dolayı önemlidir.

Anahtar Kelimeler:

Çocukluk çağı Akut Lenfoblastik Lösemili, RFC, MTHFR

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