Gene detection kit for G6PD (glucose-6-phosphate dehydroge-nase) deficiency disease

Abstract

The invention discloses a gene detection kit for G6PD (glucose-6-phosphate dehydroge-nase) deficiency, which comprises fragment amplification primers and a multiplex system thereof, probes for detecting G6PD mutation SNP locus and including a specific probe and a common probe, as well as a label connection reaction template consisting of a specific add-on binding domain and a label probe binding domain, and a tag probe capable of carrying different fluorescent marks, and a connection reaction system. The genotype of a subject can be directly confirmed by selecting disease-causing gene g6pd of the G6PD deficiency disease as a detection object, the missed diagnosis rate of women heterozygote can be significantly reduced, the testing accuracy is higher than the accuracy of other conventional testing methods. In addition, the shortest testing time of the gene detection kit is only three hours, and thus the gene detection kit is a high-efficiency, accurate, and simple and convenient novel G6PD deficiency diagnosis means.

Description

technical field [0001] The invention belongs to the technical field of biological in vitro diagnosis, and in particular relates to a G6PD deficiency gene detection kit. Background technique [0002] Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary X-linked incomplete dominant enzyme deficiency in the world. About 400 million people worldwide suffer from the disease. The G6PD gene is located on the X chromosome, the gene is about 18Kb long, has 13 exons and 12 introns, and consists of 515 amino acids. my country is one of the areas with a high incidence of G6PD deficiency, showing a distribution characteristic of high in the south and low in the north, with a prevalence rate of 0.2-44.8%. It is mainly distributed in the provinces south of the Yangtze River, especially in Hainan, Guangdong, Guangxi, Yunnan, Guizhou, Sichuan and other provinces. So far, 126 G6PD gene mutations have been found in the world, and 15 of them have been found in my...

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Problems solved by technology

[0006] In view of the shortcomings of low accuracy, high cost, and complicated operation in the detection methods of G6PD deficiency currently on the market, the present invention aims to provide a detection kit with high accuracy, low cost, and easy operation to make up for the existing detection methods. The method is easy to miss the case of female heterozygosity, help detect G6PD deficiency carriers and treat them in time, and make a contribution to prenatal and postnatal care and improvement of national physical fitness

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