Molecular Diagnosis

【 Background Introduction and Clinical Significance 】 : 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. The MTHFR A1298C polymorphism refers to type 1298AA (wild type), type 1298AC (heterozygous mutant type), and type 1298CC (homozygous mutant type). The mutation at the A1298C site causes the enzyme to be heat-intolerant and its activity to decrease. Compared with individuals of the AA type, the enzyme activity of individuals of the CC type is only about 60%. The re-methylation of Hcy is blocked, which prevents homocysteine from being methylated into methionine and leads to accumulation, resulting in 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. This kit provides an effective clinical reference for the auxiliary diagnosis and medication of patients with high homocysteine levels or abnormal folic acid metabolism.

【 Applicable Instrument 】 : Ordinary PCR instrument

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