Gene mutation detection kit for human glucose-6-phosphate dehydrogenase deficiency disease

Abstract

The invention relates to a gene mutation detection kit for a human glucose-6-phosphate dehydrogenase deficiency disease. The gene mutation detection kit comprises probes with sequences represented bySEQ NO.1-382. By carrying out distribution analysis on positive mutation sites of 500 G6PD genes in the China area and combining with Human Gene Mutation Database (HGMD) and gene mutation hotspot dataof the European and American areas, gene mutation hotspots are more comprehensively summarized, so that the problems of genetic mutation detection of nearly 99% of patients with a G6PD deficiency disease are solved, and rapid and effective execution of genetic diagnosis of the G6PD deficiency disease is realized.

Description

technical field [0001] The invention belongs to the field of gene mutation detection, in particular to a gene mutation detection kit for human glucose-6-phosphate dehydrogenase deficiency. Background technique [0002] At present, the methods for diagnosing human glucose-6-phosphate dehydrogenase (G6PD) deficiency include enzymatic diagnosis and genetic diagnosis. Among them, the detection method of G6PD enzyme activity has many advantages such as simple operation, convenience, and low price. It has been widely used in clinical diagnosis and screening, but for G6PD deficiency caused by different gene mutations, enzymatic diagnosis itself has methodological limitations, and due to the instability of G6PD, the determination of enzyme activity is easily affected by specimen collection and delivery. Time, detection methods and other factors, so the false positive rate is extremely high. [0003] Existing genetic diagnosis methods can better solve the problem of detecting hetero...

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Problems solved by technology

[0004] Aiming at the deficiencies of the existing diagnostic methods, the present invention provides a gene mutation detection kit for human glucose-6-phosphate dehydrogenase deficiency, which can make up for the detection of G6PD deficiency by the existing enzymatic diagnostic methods. High false positive rate defects, improve health economics benefits

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