A kit for rapid detection of g6pd deficiency gene mutation

Abstract

The invention discloses a kit for fast detecting G6PD (glucose-6-phosphate dehydrogenase) deficiency disease gene mutations. The kit comprises an amplification detection reagent, wherein the amplification detection reagent comprises at least one primer pair in (1) to (5): (1) specific amplification primer pairs for detecting G6PD gene G1376Tmutation sites; (2) specific amplification primer pairs for detecting G6PD gene G1388Amutation sites; (3) specific amplification primer pairs for detecting G6PD gene A95Gmutation sites; (4) specific amplification primer pairs for detecting G6PD gene G871Tmutation sites; (5) specific amplification primer pairs for detecting G6PD gene C1024Tmutation sites. When the kit simultaneously comprises five primer pairs, the goal of simultaneously detecting five kinds of mutation types including G1376T, G1388A, A95G, G871T, and C1024T in a single reaction tube can be achieved.

Description

technical field [0001] The invention relates to the technical field of medical detection, in particular to a kit for rapidly detecting G6PD deficiency gene mutation. Background technique [0002] Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common hereditary erythrocyte enzyme disease, also known as favism, it is a key enzyme and rate-limiting in the glycolytic pentose phosphate bypass Enzymes are ubiquitously present in various biological cells. G6PD deficiency can cause drug-induced hemolysis, infectious hemolysis and non-spherical cell hemolytic anemia and other diseases. Acute hemolytic anemia in newborns can cause kernicterus, which can lead to mental retardation in severe cases. [0003] G6PD deficiency is common all over the world, and has regional specificity. The incidence of the disease is higher in tropical and subtropical regions, and there is a trend of high in the south and low in the north. There are obvious differences between different ethnic gr...

AI Technical Summary

Problems solved by technology

The emergence of this type of technology makes the detection of G6PD mutations relatively convenient and stable, but this method requires relatively expensive instruments and equipment, so it is not conducive to the promotion and application of units below the municipal level

High-resolution melting curve (HRM) detection of unknown mutations in G6PD gene has certain advantages and ease of operation, but for the detection of common mutation sites, multi-tube operations are often required, which is not conducive to the screening of common mutation sites. check use

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