Molecular Diagnosis

【 Background Introduction 】 : Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folic acid metabolism. Its main function is to convert 5, 10-methylenetetrahydrofolate into 5-methylenetetrahydrofolate, which serves as the methyl donor for the re-methylation of homocysteine to methionine [1]. The MTHFR C677T polymorphism refers to type 677CC (wild type), type 677CT (heterozygous mutant type), and type 677TT (homozygous mutant type). The mutation at the C677T site causes the enzyme to be heat-intolerant and its activity to decrease. Compared with individuals of the CC type, the enzyme activity of individuals of the CT type is only 65%, while that of individuals of the TT type is only 30%. The re-methylation of homocysteine Hcy is blocked, thus preventing it from methylating into methionine and causing accumulation. It causes a decrease in folic acid levels and hyperhomocysteinemia (Hhcy). A large number of epidemiological and clinical studies have confirmed that high homocysteine is an independent risk factor for atherosclerosis, myocardial infarction, stroke and peripheral vascular disease. Meanwhile, the chronic increase of intracellular homocysteine can lead to a decrease in the ratio of adenosylmethionine to adenosylhomocysteine, inhibiting methyltransferase and causing hypomethylation, which can result in chromosomal non-separation and is closely related to birth defects such as Down syndrome, cleft lip and palate, and neural tube defects in newborns.

【 Clinical Significance 】 : This kit can be used for genotype detection of MTHFR C677T in human peripheral blood or genomic DNA extracted from human peripheral blood, providing an effective, rapid and accurate clinical reference for the auxiliary diagnosis and medication of patients with high homocysteine levels or abnormal folic acid metabolism.

【 Applicable Instrument 】 : Ordinary PCR instrument

For product details, please contact us by phone