Mitochondrial acetaldehyde dehydrogenase 2 (ALDH2) has both acetaldehyde dehydrogenase and esterase activities and is one of the key enzymes in the ethanol metabolism and nitroglycerin drug metabolism pathways. Single nucleotide polymorphisms (SNPs) in the ALDH2 gene (Glu504Lys, rs671) are associated with the efficacy of sublingual nitroglycerin tablets against acute attacks of angina pectoris in coronary artery disease and are also an important reason for individual differences in the rate of alcohol metabolism.

Carrying the mutant allele ALDH2*2 polymorphism resulted in the replacement of glutamic acid (Glu) with lysine (Lys) at position 504 of the encoded protein, causing ALDH2 to lose its ability to bind coenzymes and causing a decrease in enzyme activity, with heterozygous individuals having only about 10% of the enzyme activity of wild-type individuals and mutation-pure individuals having a loss of enzyme activity. As a result, individuals carrying the ALDH2*2 allele have a reduced ability to metabolize alcohol and experience discomfort such as flushing and rapid heartbeat with small amounts of alcohol. The ability to metabolise nitroglycerin is reduced and the anti-myocardial ischaemic effect of nitroglycerin is diminished. Patients with angina pectoris carrying the ALDH2*2 allele should be switched to other emergency medication whenever possible to avoid ineffective nitroglycerin administration. This kit is only used for the detection of specific target gene sequences, and its detection results are only for clinical reference and should not be used as the only basis for individual treatment of patients. Clinicians should comprehensively judge the test results according to the patient’s condition, drug indications, treatment response and other laboratory detection indexes.

In UltraDx ALDH2 Gene Polymorphism Detection Kit, wild type and mutant ARMS primers were designed for human ALDH2 gene by ARMS-qPCR technique, and the specific amplification products were detected by Taqman probe. Only when the allele specific primer 3’terminal base was completely complementary to the corresponding allelic genotype template, the PCR amplification reaction can be performed normally to obtain a specific product while generating a fluorescent signal. The loci to be tested were judged by the fluorescence signal results of the wild / mutant system, and the genotype was determined by the relative Ct value.

The internal standard in the kit uses house-keeping gene primers combined with specific probes to monitor the detection process in the fully closed reaction system and can effectively monitor the occurrence of false negative. In order to avoid the interaction between fluorescent signals, polymorphism detection and housekeeping genes use fluorescent groups with different emission wavelengths, in which ALDH2 gene polymorphism detection uses FAM fluorescent group; house-keeping gene uses Texas Red fluorescent group.

• Strong Specificity: Non-cross reactivity.
• Contamination control: dUTP/UNG systems to avoid carry over contamination of PCR products in subsequent amplification reactions.
• High sensitivity: 10ng/reaction.
• Internal control system: Prevent false negative results.

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.