Molecular Diagnosis

【 Background Introduction and Clinical Significance 】 : Aldehyde dehydrogenase 2 (ALDH2) is a key enzyme in the catabolism of alcohol in the human body and also has nitrate esterase activity. It is a key enzyme in the formation of nitric oxide, an effective metabolite of nitroglycerin. The ALDH2 Glu504Lys polymorphism refers to Glu504Glu type (wild type), Glu504Lys type (heterozygous mutant type), and Lys504Lys type (homozygous mutant type). Mutation at this site causes changes in enzyme activity. Studies have shown that the toxic reactions resulting from excessive alcohol consumption are not caused by ethanol itself, but by acetaldehyde, a metabolite of ethanol. The activity of ALDH2 enzyme decreases, leading to the accumulation of high concentrations of acetaldehyde in the body and causing damage to various organs. Meanwhile, ALDH2 enzyme also has nitrate esterase activity and is a key factor in the formation of nitric oxide, an effective metabolite of nitroglycerin. A decrease in ALDH2 enzyme activity leads to the inability of patients with angina pectoris to achieve rapid therapeutic effects after taking nitroglycerin, resulting in serious consequences. This kit provides auxiliary diagnosis for individuals with abnormal alcohol metabolism and offers effective clinical references for nitroglycerin medication.

【 Applicable Instrument 】 : Ordinary PCR instrument

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