5,10-Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the homocysteine (Hcy) metabolic pathway. A large number of epidemiological and clinical studies have confirmed that the 677C/T mutation is an independent stroke. risk factors [1-2]. Variations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes result in decreased activity of the corresponding enzymes that inhibit the conversion of homocysteine to methionine, lead to hypofolate and hyperhomocysteinemia, thereby increasing the risk of birth defects or spontaneous abortion in the newborn. In recent years, a large number of studies have confirmed [3-5] that mutations in the folate metabolizing enzyme genes MTHFR and MTRR can lead to the lack of folic acid in the body. Folic acid deficiency in adults may cause megaloblastic anemia, vascular endothelial damage, etc., Folic acid deficiency in pregnant women can not meet the needs of themselves and the fetus, which can cause neural tube defects, anencephaly, stillbirth, and miscarriage.
The test results of this product provide a reference for clinicians to personalize medication. This kit is only used for clinical auxiliary diagnosis. For specific clinical application, clinicians need to make judgments based on the actual situation of the patient, and the test results of this kit cannot be used as the sole basis for clinical diagnosis.
UltraDx MTHFR/MTRR Gene Polymorphism Detection Kit is used ARMS-PCR method to detect the genotypes of MTHFR (C677T, A1298C), MTRR (A66G) SNP by relative Ct value which Labeled fluorophores are FAM, HEX, Texas Red, CY5.
Applicable sample type: EDTA whole blood.
Applied Biosystems™ Real time PCR system 7500, ABI QuantStudio™5 Real-time PCR system, LightCycler® 480 PCR system, Bio-Rad CFX96 real-time PCR instrument. Ultrassay eQ9600 Real Time qPCR System etc.