The studies about diseases concerning with contemplated MTHFR 677 C>T polymorphism
作者： Müzeyyen İzmirli ,
DOI: 10.5798/DICLEMEDJ.0921.2014.01.0411
关键词:
摘要: 5,10-Metilentetrahidrofolat reduktaz (MTHFR) folik asit metabolizmasi icin en onemli enzimlerden biridir. Bu proteinin geni 1 numarali kromozomun kisa kolunda (1p36.3) haritalanmistir. MTHFR enzimi, asit, nukleotid sentezi (DNA, RNA) gibi pek cok reaksiyonu iceren hucre metabolizmasinda, kilit rol oynar. Polimorfizmler etnik kokene ve irklara gore farklilik gosteren biyocesitlilikte oynayan bir faktordur. 677 C>T polimorfizmi enzim aktivitesini azaltan polimorfizmdir. Calismanin amaci, Turkiye\'de C677T ile ilgili olan calismalari derlemektir. nedenle, yapilmis PUBMED, Turk Biyokimya Klinik & Deneysel Arastirmalar dergisinde yayinlanmis butun calismalar derlenmistir. Arastirma yapilirken âMTHFRâ, âTurk populasyonu: Turkish populationâ, â677 C>Tâ âpolimorfizm: polymorphismâ anahtar kelimeleri kullanilmistir. calismalar, belli basli hastalik gruplarina siniflandirilmis tablolar halinde okuyucunun degerlendirmesine sunulmustur.
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