Özet:

Methylenetetrahydrofolate reductaze (MTHFR) plays an important role in the folate cycle and contributes to the metabolism of the amino acid homocysteine. Some of the mutations in the MTHFR causes a decrease in the MTHFR activity. Particularly C677T and A1298C mutations in MTHFR gene are two common polymorphisms. The aim of this study is to find out the relationship between MTHFR C677T/A1298C mutations and chronic renal failure patients. Thirty-one chronic renal failure patients with developing arteriovenous thrombosis and 51 chronic renal failure patients with nondeveloping arteriovenous thrombosis were chosen. DNA was extracted from peripheral blood samples of the patients and controls. MTHFR C677T and MTHFR A1298C polymorphisms were identified by PCR (polymerase chain reaction)-RFLP (restriction fragment length polymorphism) methods. MTHFR C677T polymorphism in patients and control group normal genotype was found in 27 (87.09%) and 44 (86.27%), heterozygote genotype 4 (12.90%) and 6 (11.76%). No homozygote subjects were found in the patient group but one subject was detected in the control group (2%). MTHFR A1298C polymorphism in patients and control group normal genotype was found in 12 (38.70%) and 14 (27.50%), heterozygote genotype 12 (38.70%) and 25 (49%), homozygote genotype 7 (22.60%) and 12 (23.50%). MTHFR C677T and MTHFR A1298C genotype and allele frequency were not significantly different in patients and control groups with chronic renal failure. As a result, MTHFR C677T and MTHFR A1298C polymorphisms are not a risk factor for thrombosis in chronic renal failure patients

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