Epidemiology
Folic acid is a water-soluble vitamin that is an essential cofactor in the body's metabolic pathways. In recent years, a large number of studies have confirmed that, the mutation of the folate metabolizing enzyme gene MTHFR will lead to the deficiency of folic acid in the body, and the common damage of folic acid deficiency in adults may cause megaloblastic anemia, vascular endothelial damage, etc. Folic acid deficiency in pregnant women cannot meet the needs of themselves and the fetus, which can cause neural tube defects, anencephaly, stillbirth, and miscarriage. Serum folate levels are affected by 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms. The 677C>T and 1298A>C mutations in the MTHFR gene induce the conversion of alanine to valine and glutamic acid, respectively, resulting in reduced MTHFR activity and consequently reduced folic acid utilization.
Channel
FAM - MTHFR C677T
ROX - MTHFR A1298C
VIC(HEX) - Internal control
Technical Parameters
Storage
≤-18℃
Shelf-life
12 months
Specimen Type
Freshly collected EDTA anticoagulated blood