High myopia gene detection kit and high myopia genetic risk assessment system and method

A genetic risk assessment, high myopia technology, applied in the field of high myopia genetic risk assessment system, high myopia genetic detection kit, can solve the problems of calculation method deviation and error, experimental design difference, inaccuracy, etc., to achieve low detection cost , The effect of large detection throughput and good practical value

Pending Publication Date: 2021-11-12
成都二十三魔方生物科技有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0020] The purpose of the present invention is to provide a high myopia gene detection kit, a high myopia genetic risk assessment system, and a high myopia genetic risk assessment method, so as to solve the problem of genetic locus selection in the high myopia gene detection method in the prior art. There are deviations and errors in problems such as the limitations of human resources, ethnic differences, differences in experimental design, and calculation methods, and it is impossible to carry out accurate, fast, and low-cost general screening of high myopia risk in large-scale populations.

Method used

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  • High myopia gene detection kit and high myopia genetic risk assessment system and method
  • High myopia gene detection kit and high myopia genetic risk assessment system and method
  • High myopia gene detection kit and high myopia genetic risk assessment system and method

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0418] Example 1: Construction of a high myopia genetic risk prediction model

[0419] This example provides a predictive model for assessing the genetic risk of high myopia, which covers the polymorphic sites of the high myopia gene of the Chinese Han population, including 86 SNP sites of human genomic DNA and gender characteristics. The steps for constructing the high myopia genetic risk assessment model of the present invention are as follows: figure 2 shown.

[0420] 1) Obtain high myopia phenotype data. Design a myopia questionnaire, push and distribute the questionnaire, and volunteers voluntarily fill in the questionnaire to collect high myopia phenotype data.

[0421] 2) Obtain genetic data from participants who participated in the myopia questionnaire. Genome-wide loci and their genotype information are obtained through SNP chips or sequencing through bioinformatics analysis.

[0422] 3) Perform preprocessing and set division on the collected questionnaire and ge...

Embodiment 2

[0456] Example 2: Construction of a high myopia genetic risk gene detection kit

[0457] The site and primer design process of the kit:

[0458] According to the high myopia genetic risk prediction model obtained in Example 1, select the SNP site as the gene molecular site of the kit to form a detection PANEL model. For all the SNP sites involved in the detection of the PANEL model for the established high myopia genetic risk level, multiple PCR amplification upstream and downstream primer pairs and single-base extension primer sequences (as shown in the summary of the invention) are designed. The primer design schematic diagram is as follows Figure 10 shown.

[0459] Details about the kit:

[0460] 1.1 Main components

[0461] PCR reaction mixture, Taq enzyme, amplification primer mixture, SAP Buffer, SAP Enzyme, single base extension reaction mixture, iPlex Enzyme, extension primer mixture, ddH2O, positive control, desalting resin, mass spectrometer chip.

[0462] 1.2 S...

Embodiment 3

[0516] Application of Example 3 in Assessing High Myopia and Myopia Genetic Risk Level

[0517] Select a saliva sample from a child with high myopia, numbered mofang-hignmyopia_01, set 3 replicate wells for each sample, and perform SNP typing on the nucleic acid mass spectrometry platform. The process is as follows:

[0518] 1.1 DNA extraction

[0519] DNA extraction involves the following steps:

[0520] 1) Take out the 2ml centrifuge tube and mark it according to the sample number.

[0521] 2) Add 10uL FineMag Particles G, 30μL Proteinase K and 350μL Buffer MLD to each centrifuge tube.

[0522] 3) Transfer 500 μL of saliva sample to a centrifuge tube, mix by inverting 3 times, and vortex at high speed for 15 sec. Put into 45 ℃ constant temperature incubator for 10min.

[0523] 4) Place the centrifuge tube on the magnetic stand and let it stand for 30 sec. After the magnetic beads are completely absorbed, carefully remove the liquid.

[0524] 5) Remove the centrifuge tub...

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Abstract

The invention provides a high myopia gene detection kit and a high myopia genetic risk assessment system and method. The high myopia genetic risk assessment system comprises an acquisition module, a detection module, a prediction module and an assessment module, and the acquisition module is used for acquiring a DNA sample of a testee; the detection module comprises the high myopia gene detection kit and is used for performing genetic typing on the DNA sample; the prediction module comprises a high myopia genetic risk prediction model and is used for scoring the high myopia genetic risk of the testee; and the assessment module comprises a high myopia risk grading system and is used for determining the high myopia genetic risk grade of the testee. According to the high myopia gene detection kit, through large-scale whole-genome correlation analysis of high myopia queue crowds, a machine learning method is used to construct and select the optimal genetic risk prediction model, the high myopia genetic risk assessment system and method special for Chinese crowds are provided, and general screening of the high myopia genetic risk level of large-scale population is realized.

Description

technical field [0001] The invention belongs to the field of high myopia genetic risk assessment, and more specifically relates to a high myopia genetic detection kit, and a high myopia genetic risk assessment system and method. Background technique [0002] In my country, the prevention and control of high myopia is urgent. High myopia (High Myopia, HM) usually refers to ametropia with diopter exceeding -6.00D or axial length ≥ 26mm. Epidemiological surveys in recent years have shown that about 163 million people worldwide suffer from high myopia (2.7% of the total population), and it is estimated that by 2050, this number will increase to 938 million (9.8% of the total population). . In the Asian population, the prevalence rate of young people reaches 6.8%-21.6%, and the prevalence rate of middle-aged and elderly people is 0.8%-9.1%. my country is a typical country with a high incidence of high myopia. In recent years, the prevalence of high myopia among Chinese teenage...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11G16H50/30G16B20/20
CPCC12Q1/6883C12Q1/6858G16H50/30G16B20/20C12Q2600/156C12Q2600/16C12Q2531/113C12Q2537/143C12Q2533/101C12Q2565/627
Inventor 孙星汉米豪蒋传贵
Owner 成都二十三魔方生物科技有限公司
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