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Gene chip, kit comprising gene chip and application of gene chip

A gene chip and kit technology, which is applied in the field of gene chips for screening subjects' gene mutations, diagnosing and screening highly myopic people, can solve the problem of inability to achieve full coverage of functional gene screening, zero omissions, high accuracy, High myopia pathogenic gene screening and diagnosis limitations, low sequencing depth and other problems, to achieve the effect of saving sequencing data volume, high accuracy, and deep sequencing depth

Pending Publication Date: 2021-04-06
雷博
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AI Technical Summary

Problems solved by technology

However, due to the large amount of sequencing data generated by whole genome sequencing, the cost of sequencing is high and the sequencing depth is relatively low, and it is impossible to achieve full coverage, zero omission, and high accuracy in the screening of important functional genes. Extremely limited in diagnosis

Method used

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  • Gene chip, kit comprising gene chip and application of gene chip
  • Gene chip, kit comprising gene chip and application of gene chip
  • Gene chip, kit comprising gene chip and application of gene chip

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Embodiment

[0067] The gene probe for the gene was prepared by a commercial gene chip company, and the sequence of each gene probe was repeated three times. The design and testing of the gene chip, which includes all the gene probes for the genes listed in Table 1, designed according to the genes listed in Table 1, was performed by Aiji Taikang (Beijing) Biotechnology Co., Ltd.

[0068] 1. Preparation of kits for identification and screening of high myopia populations

[0069] The kit includes a DNA probe library of highly myopic populations prepared as follows:

[0070] 1) According to the human reference genome HG19, in combination with Ensembl, CCDS, Gencode, VEGA, SNP and CytoBand databases, obtain all coding sequences of the highly myopic population in the above table 1;

[0071] 2) For each coding sequence, from the 5' to the 3' direction, according to the principle of sequence reverse complementarity, design a probe sequence with a length of 100bp from the first base;

[0072] 3)...

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Abstract

The invention provides a gene chip for diagnosing and screening people with high myopia. The gene chip comprises a gene probe which specifically aims at a gene shown in a table 1. The molecular genes of the disease are recognized and screened by designing known pathogenic genes and mutation probes for people with high myopia, and the known pathogenic genes are detected through targeted sequencing of a target area. The gene chip has the advantages of strong pertinence, high correctness, deep sequencing depth, low cost and complete information of functional sites. Compared with whole genome sequencing, the gene chip greatly saves required sequencing data volume. Besides, most mutations of disease-related pathogenic genes are detected at a time, the cost performance is balanced, and a guarantee is provided for treatment and intervention of diseases. In addition, the invention also provides a kit which comprises the gene chip and is used for diagnosing and screening high myopia people, and a method for screening gene mutation of a subject.

Description

technical field [0001] The present invention relates to the field of genetic disease detection, in particular, to a gene chip for diagnosing and screening highly myopic people, a kit comprising the gene chip, and a gene chip for screening subjects' gene mutations using the gene chip method. Background technique [0002] High myopia (HM) usually refers to a refractive error with a diopter greater than -6.00D or an axial length ≥26 mm. HM has a high prevalence in the world, especially in Asian populations, and is one of the main factors causing blindness. In my country, the incidence of myopia is increasing year by year, and the blindness caused by high myopia is also increasing year by year, which has become a problem that affects eye health. first eye disease. [0003] High myopia is often accompanied by a series of fundus changes such as posterior scleral staphyloma, myopic macular degeneration (such as fundus atrophy, choroidal neovascularization, myopic macular schizophr...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6874C12Q1/6827C12N15/11
CPCC12Q1/6883C12Q1/6874C12Q1/6827C12Q2600/156C12Q2531/113C12Q2565/501C12Q2535/122
Inventor 雷博郝冰涛李亚张璐佳
Owner 雷博
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