Determination of the frequency of MTHFR C677T and MTHFR A1298C polymorphisms in persons with polymorphic MTHFR gene
Nihal Uğuz 1 * , Gönül Erden, Oya Güngör, Ceylan Bal, Metin Yıldırımkaya
More Detail
1 Ankara Numune Eğitim ve Araştırma Hastanesi III Biyokimya Laboratuarı, Ankara, Turkey
* Corresponding Author

Abstract

Objectives: Relationship between several diseases and the mutations on the gene that is encoding MTHFR enzyme 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 individuals who have this kind of polymorphisms.
Materials and methods: 164 individuals who were determined MTHFR polymorphism in Ankara Numune Education 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 assayed 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 heterozygote and 19 of them (11.6%) had homozygote mutant genotype. Patients number with both mutations together 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 polymorphism can be found as frequent as C677T polymorphism.

License

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Research Article

https://doi.org/10.5799/ahinjs.01.2012.04.0205

J Clin Exp Invest, 2012 - Volume 3 Issue 4, pp. 472-476

Publication date: 13 Dec 2012

Article Views: 3164

Article Downloads: 5384

Open Access References How to cite this article