Müzeyyen İZMİRLİ, Özgür ALDEMİR, Bülent GÖGEBAKAN, DAVUT ALPTEKİN

MTHFR 677 C>T Polimorfizmi ile ilintili olduğu düşünülen hastalıklara dair Türk populasyonundaki çalışmalar

5,10-Metilentetrahidrofolat redüktaz (MTHFR) folik asit metabolizması için en önemli enzimlerden biridir. Bu proteinin geni 1 numaralı kromozomun kısa kolunda (1p36.3) haritalanmıştır. MTHFR enzimi, folik asit, nükleotid sentezi (DNA, RNA) gibi pek çok reaksiyonu içeren hücre metabolizmasında, kilit rol oynar. Polimorfizmler etnik kö- kene ve ırklara göre farklılık gösteren ve biyoçeşitlilikte rol oynayan bir faktördür. MTHFR 677 C>T polimorfizmi enzim aktivitesini azaltan bir polimorfizmdir. Çalışmanın amacı, Türkiyede MTHFR C677T polimorfizmi ile ilgili olan çalışmaları derlemektir. Bu nedenle, Türkiyede yapılmış MTHFR 677 C>T polimorfizmi ile ilgili PUBMED, Türk Biyokimya ve Klinik & Deneysel Araştırmalar dergisinde yayınlanmış bütün çalışmalar derlenmiştir. Araştırma yapılırken MTHFR, Türk popülasyonu: Turkish population, 677 C>T polimorfizm: polymorphism anahtar kelimeleri kullanılmıştır. Bu çalışmalar, belli başlı hastalık gruplarına göre sınıflandırılmış ve tablolar halinde okuyucunun değerlendirmesine sunulmuştur.

The studies about diseases concerning with contemplated MTHFR 677 C>T polymorp

5,10-Methlenetetrahydrofolate reductase (MTHFR) is one of the most important enzymes for folic acid metabolism. This proteins gene is mapped on chromosome 1, which is located at the end of the short arm (1p36.3). MTHFR enzyme plays a key role in cell metabolism including folic acid and nucleotide synthesis (DNA, RNA). Polymorphism is also a factor in biodiversity, and is different according to ethnic heritage and racial. The 677 C>T is also MTHFR polymorphisms that decrease MTHFR enzyme activity. The aim of this study is to compile studies are associated with MTHFR C677T polymorphism. PUBMED, Turk Biochemistry and Jornal of Clinical & Experimental Investigations were searched to develop an investigatory pursuit strategy. MTHFR, Turkish population, 677 C>T and polymorphisms were key words including MTHFR, Türk popülasyonu: Turkish population, 677 C>T polimorfizm: polymorphism used to focus the search. The literature review included all published relevant Turkish population and MTHFR polymorphisms for that all of study. The data of selected polymorphism for Turkish population was listed in tables for easy access and retrieval.

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