Molecular Diagnosis

【 Background Introduction and Clinical Significance 】 : Methionine synthase (MS) is a key enzyme in Hcy metabolism. MS plays a crucial role in maintaining the intracellular levels of methionine and tetrahydrofolate and the non-toxic concentration level of homocysteine. Methionine synthase reductase (MTRR) is involved in the recovery of MS activity. If the MTRR gene mutates, it will cause an increase in the plasma concentration of homocysteine. The MTRR A66G polymorphism refers to 66AA type (wild type), 66AG type (heterozygous mutant type) and 66GG type (homozygous mutant type). Compared with the 66AA type, the enzyme activity of the 66GG type has decreased by four times, resulting in a decline in its own ability to catalyze the methionine synthase reaction. Most experimental studies have confirmed that the A66G polymorphism is a risk factor for high homocysteine levels. 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

For product details, please contact us by phone.