Primers, probes and kits for detecting g6pd deficiency gene mutation

A deficiency and kit technology, applied in recombinant DNA technology, microbial assay/inspection, biochemical equipment and methods, etc., can solve the complex fusion front map of heterozygotes, low coverage of genetic testing kits, and interpretation of results. Difficulty and other problems to achieve the effect of reducing the cost of clinical testing, meeting the accuracy of testing, and meeting the needs of screening
CN104450925BActive Publication Date: 2016-09-14亚能生物技术(深圳)有限公司
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
亚能生物技术(深圳)有限公司
Publication Date
2016-09-14

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Abstract

The invention relates to primers for detecting gene mutation caused by G6PD deficiency disease. The primers are as shown in SEQ ID NO: 1-32. The invention further relates to probes for detecting gene mutation caused by G6PD deficiency disease. The probes are as shown in the sequences SEQ ID NO: 33-67. The invention further relates to a kit for detecting gene mutation caused by G6PD deficiency disease. The kit comprises a PCR reaction liquid I, a PCR reaction liquid II and a PCR reaction liquid III. The kit for detecting gene mutation caused by G6PD deficiency disease provided by the invention has the advantages of high coverage rate, high detection rate of female heterozygote, low cost and high accuracy.
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Description

technical field

[0001] The invention relates to gene detection technology, in particular to primers, probes and kits for detecting G6PD deficiency gene mutation. Background technique

[0002] Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is one of the most common human enzyme deficiency diseases. The essence of G6PD deficiency is the G6PD gene mutation, which is an X-linked incomplete dominant inheritance. The clinical manifestations of patients vary. If G6PD deficiency can be detected and given early intervention, it can often play a very good preventive effect. Because males have only one X chromosome, there are only two types of hemizygotes, normal and significantly deficient. Females have two X chromosomes, and they are divided into normal, heterozygous and homozygous groups according to the number of G6PD mutation genes they carry. Heterozygotes account for the vast majority of female patients. It has long been confirmed at home and abroad that G6P...

Claims

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