Sucu, Derya KaynakAslan, Diler2021-12-072021-12-072009-12İlçöl, Y. Ö. vd. (2009). "Rate of T alleles and TT genotype at MTHFR 677C->T locus or C alleles and CC genotype at MTHFR 1298A->C locus among healthy subjects in Turkey: Impact on homocysteine and folic acid status and reference intervals". Cell Biochemistry and Function, 27(8), 568-577.0263-6484https://doi.org/10.1002/cbf.1610https://onlinelibrary.wiley.com/doi/10.1002/cbf.1610http://hdl.handle.net/11452/23020Methylenetetrahydrofolate reductase (MTHFR) is important for folate and homocysteine (Hcy) metabolism. MTHFR 677C->T and 1298A->C MTHFR are two most common mutations which can affect. folate and total homocysteine (tHcy) status This study was designed to determine the rate of,MTHFR 677C->T and 1298A->C mutations. and their Influence Oil serum folate, Hcy and vitamin B12 Status and the reference intervals in 402 healthy Turkish adults. The rate of MTHFR 677C->T or 1298A->C mutations was 50 7% or 54 7%. respectively. The MTHFR 677C->T mutation-specific reference intervals for serum folate and tHcy were characterized by marked shifts in their upper limits In homozygote subjects for MTHFR 677C->T serum folate concentration was lower and serum tHcy concentration was higher than those in the wild genotype. all subjects had lower serum folate and 54% of the subjects had higher tHcy concentration,; than the cutoff Values of <= 10 nmol/L and >= 12 mu mol/L, respectively. Serum vitamin 1312 status was similar in all genotypes Serum tHcy concentrations were inversely correlated with serum folate and vitamin B12 concentrations in all genotypes These data show that the rate of MTHFR 677C->T and 1298A->C mutations is very high in Turks and serum folate and tHcy status are impaired by these mutations.eninfo:eu-repo/semantics/closedAccessFolateHomocysteineMTHFRMutationsReference intervalsTurkeyVitamin B12Methylenetetrahydrofolate reductase geneApproved recommendation 1987Collected reference valuesCoronary-artery-disease3rd national-healthPlasma homocysteineCardiovascular-diseaseCommon mutationRisk-factorStatistical treatmentBiochemistry & molecular biologyCell biologyAdolescentAdultAllelesFemaleFolic acidGenotypeHealth statusHomocysteineHumansMaleMethylenetetrahydrofolate reductase (NADPH2)Middle agedPoint mutationTurkeyVitamin B 12Young adultArticle0002725768000102-s2.0-7194908702756857727819764044Biochemistry & molecular biologyCell biologyClinical Chemistry; Thyrotropin; Nonparametric Methods5,10 methylenetetrahydrofolate reductase (FADH2)AlanineCyanocobalaminCysteineFolic acidHomocysteineMethionineThreonineAdultAlleleAmino acid blood levelArticleControlled studyFemaleFolic acid blood levelGene locusGene mutationGenetic polymorphismGenotypeHomozygoteHumanHuman experimentMaleMethylationMutation rateNormal humanPriority journalReference valueTurkey (republic)Vitamin blood levelVitamin metabolism