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

A technology of phosphate dehydrogenase and detection kit, which is applied in the determination/inspection of microorganisms, biochemical equipment and methods, etc., can solve the problems of high false positive rate of G6PD deficiency, improve health economic benefits, and improve diagnosis accuracy rate, the effect of improving population quality

Active Publication Date: 2020-06-19
上海源庆生物科技有限公司
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AI Technical Summary

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

Method used

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

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0018] 1. Synthetic chip

[0019] Through database screening and population frequency calculation, 382 sites were sequentially selected, and corresponding probes were synthesized from these sites to produce chips (see Table 1, some probes were designed repeatedly to place the same probes at different positions on the chip). needle, thereby increasing the accuracy of results for certain sites).

[0020] Table 1 Locus number and sequence information (chromosomal position: Xq28)

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[0038] 2. Collect samples

[0039] With the informed consent of G6PD patients, peripheral blood was collected after approval. A total of 25 cases, including 24 male patients and 1 female patient, were all SNV patients, as verification samples.

[0040] 3. Sample preparation and detection reaction

[...

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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...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 黄守锋
Owner 上海源庆生物科技有限公司
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