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SMN2 gene copy number variation detection kit

A gene copy number and kit technology, applied in recombinant DNA technology, microbial measurement/inspection, DNA/RNA fragments, etc., can solve problems such as long process time

Pending Publication Date: 2022-05-13
DAAN GENE CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The sensitivity and throughput of DHPLC are high, and accurate quantification can be carried out with the help of internal standard genes through the peak shape diagram, but because the experimental process involves both PCR amplification and liquid phase detection of DNA denaturation and renaturation, the process time is too long, and Precise control over the number of PCR cycles required

Method used

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  • SMN2 gene copy number variation detection kit
  • SMN2 gene copy number variation detection kit
  • SMN2 gene copy number variation detection kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0141] Embodiment 1: Kit

[0142] This embodiment provides the composition, packaging and quantity (24 reactions / box) of a SMN2 gene copy number variation detection kit, as shown in Table 10:

[0143] Table 10 The composition, packaging and quantity of the kit

[0144]

Embodiment 2

[0145] Embodiment 2: Sensitivity detection and minimum detection rate

[0146] Sensitivity reference products are mixed with SMN2 gene template DNA and KRIT1 internal control gene template DNA respectively to form a mixture with C(SMN2) of 2, 3, and 4. The concentrations of the mixture are 1ng / μL, 0.5ng / μL, and 0.01ng / μL, respectively. ; Wherein, the SMN2 gene template DNA and the KTRIT1 gene template DNA are derived from artificially synthesized DNA fragments 1 and 2 respectively; the positive control is a mixture of artificially synthesized large fragments 1 and 2, which are respectively mixed into C (SMN2) of 2, 3, and 4; The negative control is normal human whole blood DNA;

[0147] Take 5 μL each of the negative control, the positive control, and 15 μL each of the sensitivity reference product (3 parallel reaction wells), and add the sample to the eight-tube tubes of the dPCR reaction system prepared in step 2, so that the total volume of each tube of dPCR reaction soluti...

Embodiment 3

[0157] Example 3: Accuracy

[0158] According to the measured copy numbers of artificially synthesized DNA fragments 1 and 2, prepare reference products for accuracy;

[0159] The SMN2 gene template DNA and the KRIT1 gene template DNA were mixed in a certain proportion to prepare mixtures with copy number ratios C(SMN2) of 2, 3, and 4 respectively; wherein, the SMN2 gene template DNA and the KTRIT1 gene template DNA were derived from artificial synthesis DNA fragment 1, 2;

[0160] Do 2 repeated experiments for each accuracy reference product, a total of 6 tubes; take 5 μL of the SMN2 accuracy reference product, add the sample to the eight-tube tube of the dPCR reaction system prepared in step 2, so that the total volume of the dPCR reaction solution is 15 μL; tightly cap the eight-tube tube, mix thoroughly, and centrifuge at high speed for 10 seconds for micro-reaction preparation;

[0161] Take 15 μL of the prepared dPCR reaction solution, and automatically and evenly subd...

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Abstract

The invention provides an SMN2 gene copy number variation detection kit, and particularly develops a method, a primer, a probe and a kit for rapidly and qualitatively detecting deletion of a seventh exon of a human spinal muscular atrophy (SMA) key pathogenic gene and a motor neuron survival gene SMN2 based on a digital PCR (Polymerase Chain Reaction) platform, and a kit for rapidly and qualitatively detecting deletion of a seventh exon of a human spinal muscular atrophy (SMA) key pathogenic gene and deletion of a seventh exon of a motor neuron survival gene SMN2. Experimental results show that the detection system provided by the invention has extremely high sensitivity and accuracy.

Description

technical field [0001] The invention belongs to the field of biotechnology, in particular, the invention relates to a SMN2 gene copy number variation detection kit. Background technique [0002] Spinal muscular atrophy (SMA) is an autosomal recessive, progressive neurodegenerative disease characterized by symmetrical muscle weakness and atrophy caused by neuronal cell degeneration in the ventral gray horn of the spinal cord. The incidence of SMA is about 1 in 10,000, and it is one of the most common causes of genetic death in infants. The carrier frequency of SMA pathogenic genes in the Chinese population is 1 / 42. According to the age of onset and the severity of clinical manifestations, SMA can be divided into three types: type 1 is called severe type, and the onset occurs within 6 months after birth, the child cannot sit or stand, and usually dies within two years of age; It is called the intermediate type, and the onset occurs within 6-18 months after birth. The child ca...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6883C12Q1/6858C12Q2600/156C12Q2600/112C12Q2563/107C12Q2563/159C12Q2537/16
Inventor 蒋析文潘翠园钟敏敏朱小亚
Owner DAAN GENE CO LTD
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