Determination of the frequency of MTHFR C677T and MTHFR A1298C polymorphisms in persons with polymorphic MTHFR gene

Objectives: Relationship between several diseases andthe mutations on the gene that is encoding MTHFR enzymehas been investigated. Studies are focused on thebest known mutations; MTHFR C677T and A1298C. Thisstudy is planned for determining the frequency of C677Tand A1298C polymorphism of MTHFR gene for individualswho have this kind of polymorphisms.Materials and methods: 164 individuals who were determinedMTHFR polymorphism in Ankara Numune Educationand Research Hospital Biochemistry Laboratory wereincluded in the study. 44 of them were men and 120 ofthem were women. The mean of age of the patients were48,4±16,8 year (18-76). MTHFR polymorphism was assayedby ROCHE Light Cycler 1.5 Real Time PCR.Results: In 109 of 164 patients (66.5%) MTHFR C677Tpolymorphisms were determined. While 89 of thesepatients (54.3%) were heterozygote, 20 of them were(12.2%) homozygote mutant type. In 95 patients (57.9%)A1298C mutation was determined, 76 (46.3%) were heterozygoteand 19 of them (11.6%) had homozygote mutantgenotype. Patients number with both mutations togetherwas 40 (24.4%). In the study group, no differencewas found in frequency of MTHFR C677T and MTHFRA1298C polymorphisms (p>0.05).Conclusions: In our study, it is seen that in individualsdetermined polymorphism, even MTHFR A1298C polymorphismcan be found as frequent as C677T polymorphism.J Clin Exp Invest 2012; 3(4): 472-476Key words: MTHFR, C677T, A1298C, Polymorphism