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Pharmacogenomic Standard


Description

With the development of pharmacogenomics, more and more pharmacogenomic biomarkers and their detection methods have emerged. Pharmacogenomics has become an important tool for guiding clinical individualized drug use, assessing the risk of serious adverse drug reactions, guiding new drug development and evaluating new drugs. Some new drugs on the market are limited to patients with specific genotypes.

Detection of drug metabolizing enzymes and drug target genes can guide clinicians to select appropriate drugs and dosages for specific patients, achieve individualized drug use, thereby improving the effectiveness and safety of drug treatment and preventing the occurrence of serious adverse drug reactions.

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



Introduction


CYP2C9

Warfarin is a widely used oral coumarin anticoagulant, which is mainly used to prevent and treat thromboembolic diseases, as well as bone and joint replacement, cerebral infarction and postoperative rehabilitation of cardiac stent surgery. Common variants that reduce the metabolism of warfarin are CYP2C9*2 and CYP2C9*3.

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CYP2C19

Clopidogrel is a new antiplatelet drug widely used in the fields of acute coronary syndrome, myocardial infarction, ischemic stroke and peripheral arterial vascular disease. Research is mainly focused on the field of acute coronary syndrome (ACS), and there is a lot of evidence that CYP2C19 loss-of-function alleles (*2, *3) are associated with worse clinical symptoms.

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ALDH2

ALDH2 has both acetaldehyde dehydrogenase and esterase activities, and is involved in the metabolism of drugs such as ethanol and nitroglycerin. Nitroglycerin tablets are an anti-angina emergency drug, mainly used for the prevention and treatment of angina pectoris caused by coronary heart disease. It can also be used to lower blood pressure or treat congestive heart failure.

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MTHFR

Folic acid, also known as vitamin B9, is a water-soluble vitamin. Folic acid plays an important role in cell division and growth, and the synthesis of nucleic acids, amino acids, and proteins. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folic acid metabolism system. MTHFR gene mutations can cause changes in the activity of the enzyme it encodes, thereby affecting folic acid metabolism..

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Other

Genetic polymorphism refers to the existence of two or more variants or genotypes or alleles in a biological population. Human genetic polymorphism is of great significance in clarifying the human body's susceptibility to disease, tolerance to toxicants, differences in drug metabolism, and the molecular mechanisms of hereditary diseases.

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