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

摘要

Objectives:Relationship between several diseases and the mutations on the gene that is encoding MTHFR en-zyme has been investigated. Studies are focused on the best known mutations; MTHFR C677T and A1298C. This study is planned for determining the frequency of C677T and A1298C polymorphism of MTHFR gene for individu-als who have this kind of polymorphisms.Materials and methods:164 individuals who were deter-mined MTHFR polymorphism in Ankara Numune Educa-tion and Research Hospital Biochemistry Laboratory were included in the study. 44 of them were men and 120 of them were women. The mean of age of the patients were 48,4±16,8 year (18-76). MTHFR polymorphism was as-sayed by ROCHE Light Cycler 1.5 Real Time PCR.Results:In 109 of 164 patients (66.5%) MTHFR C677T polymorphisms were determined. While 89 of these patients (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 het-erozygote and 19 of them (11.6%) had homozygote mu-tant genotype. Patients number with both mutations to-gether was 40 (24.4%). In the study group, no difference was found in frequency of MTHFR C677T and MTHFR A1298C polymorphisms (p>0.05). Conclusions:In our study, it is seen that in individuals determined polymorphism, even MTHFR A1298C poly-morphism can be found as frequent as C677T polymor-phism