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

Yıl 2018, , 180 - 183, 27.06.2018

Dilara Fatma Akın , Ahmet Emin Kürekçi Nejat Akar

https://doi.org/10.16948/zktipb.379688

Öz

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

Kaynakça

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