Aim: Methylenetetrahydrofolate reductase is an important enzyme of folate metabolism. Human MTHFR gene is localized to chromosome 1p36.3 and coded MTHFR enzyme which consists of 563 amino acids. Some mutations seen in the MTHFR gene, resulting in the inactivation of the enzyme, cause hyperhomocysteinemia and homocystinuria as being important risk factors for cardiovascular and cerebrovascular diseases. According to the numerous literature data, polymorphic variant of the MTHFR-encoding gene, is associated with hyperhomocysteinemia, vascular pathologies, neural tube defects, dementia, perinatal mortality, mental disorders, neurodegenerative disorders, cancer and migraine. The aim of this study was to determine allelic frequencies of the polymorphic MTHFR gene C677T, A1298C. In this regard, we have investigated the allelic frequencies of C677T and A1298C polymorphisms of the MTHFR gene in 222 (109 females and 113 males) randomized individuals around Sivas.
Materials and Methods: The study group was selected between individuals residing in Sivas. Total 222 subjects (109 men and 113 woman) were enrolled in the study. The subjects were informed of the purpose of the study and signed a written consent, which had previously been approved by the Ethical Committee. They also filled out questionnaire. DNA isolation was performed from peripheral blood samples such that thegene polymorphisms were determined. The mutation analysis was performed by StripAssay technique which is based on the Reverse-Hybridization principle automatically. Data were analyzed by SPSS 15.0 package program.
Results:: The frequency in around Sivas of the C677T genotype was 54%; of C677C, 42%; and of T677T, 4%. The frequency in around Sivas of 1298 AC genotype was 46%; of A1298A, 46%; and of C1298C, 9%. The allelic frequencies of the T allele of MTHFR 677 and the C allele of MTHFR 1298 were both 31%.
Key Words: Methylenetetrahydrofolate Reductase, Polimorphism, Homocysteine
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