Pharma Cogenetics

Human Leukocyte Antigens (HLA) play a key role in the development of severe immune-mediated adverse drug reactions. Multiple phenotypically distinct immune-mediated adverse drug reactions have been associated in particular with the carriage of specific HLA class I risk alleles.

For Asians, especially the Han people, HLA-B*5801 is highly related to an allergy to allopurinol, a commonly used drug for the treatment of gout and hyperuric acid. Individuals with the genetic marker HLA-B*5801 have a much higher risk of blindness, death, and Stevenson-Jonson syndrome after taking this drug. Therefore, testing whether the HLA-B*5801 allele is carried can reduce the risk of SJS/TEN induced by allopurinol in patients.

This kit is a supplementary reagent for the "Human MTHFR Gene Polymorphism Detection Kit", which can qualitatively detect the polymorphism of human MTHFR gene locus c.1298 and human MTRR gene locus c.66. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the methionine-folate metabolism system,Together with MTRR, and maintains the normal metabolism of folic acid with methionine synthase  reductase(MTRR). In addition, it is also involved in maintaining normal homocysteine levels in the body. MTHFR and MTRR gene encode the key enzymes of folate metabolism and the mutations can reduce the activity of these enzymes, cause folate metabolism disorders, low folate levels and hyperhomocysteinemia. People with abnormal MTHFR gene has low enzyme activity and folic acid metabolism disorders, which lead to a  significantly increased risk of neonatal neural tube defects, Down syndrome, and cleft lip and palate. And such people need more folic acid supplements to achieve the desired effect.