Capture probe and kit for primary atopic disease related genes and application of kit

A technology for capturing probes for atopic diseases, which is applied in the determination/testing of microorganisms, biochemical equipment and methods, DNA/RNA fragments, etc., which can solve the problems of different gene penetrance and the same clinical phenotype, and achieve The effect of improving diagnostic efficiency

Pending Publication Date: 2021-07-23
SHENZHEN CHILDRENS HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, due to the different penetrance of genes, the interaction between genes and the environment may cause incomplete clinical phenotypes

Method used

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  • Capture probe and kit for primary atopic disease related genes and application of kit
  • Capture probe and kit for primary atopic disease related genes and application of kit
  • Capture probe and kit for primary atopic disease related genes and application of kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0082] Example 1. Preparation of primary atopic disease-associated gene capture probe set and kit

[0083] 1. Design and preparation of gene capture probes related to primary atopic diseases

[0084] According to the whole exon sequence of the gene related to the primary atopic disease, a 120bp probe sequence is designed for the non-repetitive region in each region, and each sequence is designed by moving along the gene position. Using in situ synthesis technology, a large number of designed probes were synthesized. The 37 related genes of this primary atopic disease are FLG, CDSN, DSG1, DSP, SPINK5, PLCG2, ADGRE2, TPSABl, FOXP3, IL2RA, TGFBR1, TGFBR2, WAS, MALT1, CARD11, WIPF1, ARPCIB, DOCK8, CARMIL2 , ERBIN, ZNF341, RAG1, RAG2, DCLRE1C, ADA, IL7RA, CHD7, LIG4, ZAP70, STAT3, STAT1, STAT5B, JAK1, IL4RA, IL6ST, IL6R, PGM3.

[0085] A large amount of biotin-labeled probes were amplified by PCR, and the specific method was as follows:

[0086] The probe synthesized above was d...

Embodiment 2

[0157] Embodiment 2, the application of kit

[0158] The present invention will be described in further detail below through specific embodiments

[0159] Using the kit described in Example 1 of the present invention to detect 3 samples, the results confirmed that the average sequencing depth of the target region causing the disease is 300X, which is much higher than the general genetic disease diagnosis requirement (generally 100X). The specific testing experiments and results are as follows:

[0160] 1. Patient number 2021-01-01, male, 3 years and 8 months old, the test sample was whole blood, and the test was carried out using the kit of Example 1 of the present invention. The test results are shown in Table 1, indicating that the gene STAT3 has a mutation . at chr17:404

[0161] A mutation occurred at position 81661, that is, a missense mutation c.1144C>T occurred in exon13. As shown in Table 1, the disease phenotype was autosomal dominant hyper-IgE syndrome. The refer...

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Abstract

The invention discloses a capture probe and a kit for primary atopic disease related genes and application of the kit. The primary atopic disease related genes captured by the capture probe are selected from two or more of FLG, CDSN, DSG1, DSP, SPINK5, PLCG2, ADGRE2, TPSAB1, FOXP3, IL2RA, TGFBR1, TGFBR2, WAS, MALT1, CARD11, WIPF1, ARPC1B, DOCK8, CARMIL2, ERBIN, ZNF341, RAG1, RAG2, DCLRE1C, ADA, IL7RA, CHD7, LIG4, ZAP70, STAT3, STAT1, STAT5B, JAK1, IL4RA, IL6ST, IL6R and PGM3. The capture probe effectively improves the diagnosis efficiency of primary atopic diseases, and can provide a diagnosis basis for treatment. Mutation sites of the primary atopic diseases can be accurately and quickly detected.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a capture probe, kit and application of primary atopic disease-related genes. Background technique [0002] Primary atopic disorders (PADs) are hereditary diseases caused by mutations in a single gene. In addition to the generally considered defects in immune tolerance mechanisms, gene defects involved in the regulation of skin barrier, mast cell function, TCR signaling, cytoskeleton, and cytokine signaling pathways may all manifest as PADs. However, due to the different penetrance of genes, the interaction between genes and the environment may cause incomplete clinical phenotypes. The 37 genes related to PADs mainly include FLG, CDSN, DSG1, DSP, SPINK5, PLCG2, ADGRE2, TPSAB1, FOXP3, IL2RA, TGFBR1, TGFBR2, WAS, MALT1, CARD11, WIPF1, ARPC1B, DOCK8, CARMIL2, ERBIN, ZNF341, RAG1 , RAG2, DCLRE1C, ADA, IL7RA, CHD7, LIG4, ZAP70, STAT3, STAT1, STAT5B, JAK1, IL4RA, IL6ST, IL6R, PGM3. [0...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6869C12N15/11
CPCC12Q1/6883C12Q1/6869C12Q2600/156C12Q2527/125C12Q2531/113C12Q2535/101
Inventor 夏宇朱晓娜沈杰杨军史丽娜
Owner SHENZHEN CHILDRENS HOSPITAL
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