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Glucocerebrosidase gene detection kit and detection method thereof

A technology of cerebrosidase and gene detection, which is applied in the field of genetic engineering, can solve problems such as time-consuming, complicated operation, low throughput of GBA, etc., and achieve the effect of reducing operation steps, simplifying operation process and high accuracy

Active Publication Date: 2021-02-02
GUANGDONG HUAMEI ZHONGYUAN BIOLOGICAL SCI & TECH
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] In view of the shortcomings of low-throughput, complicated operation, and long time-consuming in the current main technology for detecting GBA, the present invention aims to provide a high-throughput, easy-to-operate, and rapid detection kit to realize genetic screening of GBA

Method used

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  • Glucocerebrosidase gene detection kit and detection method thereof
  • Glucocerebrosidase gene detection kit and detection method thereof
  • Glucocerebrosidase gene detection kit and detection method thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0053] Embodiment 1: No. 1 sample detection

[0054] Test No. 1 sample according to the above-mentioned method, and obtain the following results: image 3 As shown in the spectrum, it can be seen that sample No. 1 has a single point mutation at the N188S site.

Embodiment 2

[0055] Embodiment 2: No. 2 sample detection

[0056] Its overall flow process is identical with embodiment 1, and the testing result of No. 2 sample is as follows Figure 4 As shown, it can be seen that sample No. 2 has a single point mutation at the F213I site.

Embodiment 3

[0057] Embodiment 3: No. 3 sample detection

[0058] Its overall flow process is identical with embodiment 1, and the detection result of No. 3 sample is as follows Figure 5 As shown, it can be seen that sample No. 3 has a single point mutation at the D409H site.

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Abstract

The invention provides a detection method and kit for glucocerebrosidase gene, the detection kit includes primer pairs for specifically amplifying 4 mutation sites on the glucocerebrosidase gene, 4 mutation sites The points are N188S, F213I, D409H and L444P respectively, and the primer pair includes a common upstream primer and a typing downstream primer, and the typing downstream primer includes a wild-type specific primer and a mutant-specific primer. The genotypes of the four mutation sites of the glucocerebrosidase gene can be quickly and efficiently detected by using the kit of the invention, and it is a fast, simple, economical and efficient glucocerebrosidase gene detection kit.

Description

technical field [0001] The invention relates to the technical field of genetic engineering, in particular to a glucocerebrosidase gene detection kit and a detection method thereof. Background technique [0002] Mutations in the gene encoding glucocerebrosidase (Glucocerebmsidas, hereinafter referred to as GBA) will cause the deficiency of glucocerebrosidase, thereby causing mononuclear- The accumulation of macrophages leads to the onset of the disease, resulting in clinical manifestations such as hepatosplenomegaly, bone deformity, growth retardation, and anemia. [0003] In view of the shortcomings of low-throughput, complicated operation, and long time-consuming in the current main technology for detecting GBA, the present invention aims to provide a high-throughput, easy-to-operate, and rapid detection kit to realize genetic screening for GBA. Contents of the invention [0004] The invention aims to provide a high-accuracy, low-cost, high-throughput and rapid detection...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/686C12Q1/6876C12Q2600/156C12Q2531/113C12Q2565/125
Inventor 郑文彦杜蔚安黄源坚王邦超吴智锋彭百华
Owner GUANGDONG HUAMEI ZHONGYUAN BIOLOGICAL SCI & TECH
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