MTHFR Reference Standard

Background

The human methylenetetrahydrofolate reductase (MTHFR) gene is located on chromosome 1 at position 1p36.3. MTHFR is 20.374 kb long, consists of 12 exons, and the mRNA is 7,150 bp long, encoding a protein consisting of 656 amino acid residues. The encoded methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate and methionine metabolism, converting reduced folate to 5-methyltetrahydrofolate (5-MTHFR), which then donates a methyl group to homocysteine to form methionine.

Introduction

The MTHFR gene is polymorphic, and there are three genotypes at the MTHFRc.677 site: CC type (wild type), CT type (heterozygous mutant type), and TT type (homozygous mutant type).

The C677T genetic polymorphism of this enzyme affects enzyme activity, causing impairment in the folate metabolism pathway. Folic acid metabolism defects can lead to a variety of diseases, including birth defects, gestational hypertension, and type H hypertension. Abnormal enzyme activity caused by MTHFR gene mutations is the primary cause of folate metabolism impairment. Genetic testing can guide medication and prevent birth defects in newborns. Folate metabolism gene testing can predict an individual's folate metabolism capacity.

The detection of genes related to medication guidance is of great significance to clinical patients. In order to ensure the accuracy of genetic testing, Kebai Bio has launched standard products related to medication guidance gene testing, which can be selected by manufacturers developing test kits.