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Molecular marker of myopia-related susceptibility genes as well as detection primer group and application thereof

A susceptibility gene and molecular marker technology, which can be used in biochemical equipment and methods, microbial determination/inspection, recombinant DNA technology, etc., and can solve the problems of high Sanger sequencing cost, high cost, and strict amplification conditions.

Active Publication Date: 2020-11-06
陕西九州医学检验有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The PCR-RFLP operation is complex and time-consuming, the result reliability is poor, the amplification conditions are strict, and the operation is cumbersome; the gene chip is fast and efficient, but its cost is high; the cost of Sanger sequencing is high, and the heterozygote is not easy to type

Method used

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  • Molecular marker of myopia-related susceptibility genes as well as detection primer group and application thereof
  • Molecular marker of myopia-related susceptibility genes as well as detection primer group and application thereof
  • Molecular marker of myopia-related susceptibility genes as well as detection primer group and application thereof

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Embodiment 1

[0134] This embodiment provides a molecular marker and its detection primer set for assessing the genetic risk level of high myopia, which covers the polymorphic sites of the high myopia gene in Asian populations (especially Chinese populations), including 24 high myopia genes in human genomic DNA Multiplex PCR amplification of upstream and downstream primer pairs and single base extension primers for 37 SNP sites of susceptibility genes related to myopia and pathological myopia.

[0135] Among them, the 24 high myopia and pathological myopia susceptibility genes in human genomic DNA are MIR100HG, TCFB1, UMODL1, BMP2K, PAX6, MYP11, MIPEP, GJD2, COL18A1, TGF-β2, ZC3H11B, VIPR2, FGF10, RASGRF1, CHRM1, SNTB1, ZFHX1B, APLP2, KCNQ5, CYP26A1, CHRNG, RBFOX1, BICC1, ZMAT4; in addition, the molecular markers are 24 SNP loci of high myopia and pathological myopia susceptibility genes, including rs577948, rs4803455, rs2839471, rs2288255, rs3026393 、rs10034228、rs9318086、rs524952、rs2236475...

Embodiment 2

[0150] 1. In order to verify the effectiveness of the amplification primers and extension primers of the high myopia genetic risk assessment method of the present invention and the actual consistency between the test results and the samples, two oral mucosa samples of children with different myopia backgrounds were selected, numbered RY-ETPM respectively -01 and RY-ETPM-02, set 3 duplicate wells for each sample, and perform SNP typing on the nucleic acid mass spectrometry platform, the process is as follows:

[0151] S1. Oral mucosal DNA extraction: use Hangzhou Bioer Oral Swab Genomic DNA Extraction Kit to extract DNA from oral mucosal exfoliated cells. Add a certain amount of absolute ethanol to WB1 and WB reagents. Take out the sampling cotton swab from the sampling tube and transfer it to a 2mL centrifuge tube, cut the cotton swab part from its stem with scissors; add 600μL Lysis Buffer and 10uLPK Solution, shake and mix for 15 seconds; incubate at 56°C for 15 minutes; Ad...

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Abstract

The invention is applicable to the fields of biotechnology and ophthalmic health, and provides a molecular marker of a myopia-related susceptibility gene as well as a detection primer group and application of the molecular marker. The detection primer group of the molecular marker comprises multiple PCR amplification upstream and downstream primer pairs of 37 SNP loci of 24 high myopia and pathological myopia-related susceptibility genes of human genome DNA, and a single base extension primer. According to the invention, sample nucleic acid mass spectrum detection can be carried out by using amultiplex PCR amplification technology, the 37 SNP loci can be detected at one time by double reaction holes, through correlation analysis of highly myopia susceptibility genes and genetic risks, a highly myopia genetic risk level assessment method special for Chinese population is provided by using a highly myopia genetic risk assessment system, and the method has the advantages of high detection flux, high efficiency, high accuracy, low cost and the like, and is suitable for large-scale population screening.

Description

technical field [0001] The invention belongs to the fields of biotechnology and eye health, and in particular relates to a molecular marker of a myopia-related susceptibility gene, a detection primer set and application thereof. Background technique [0002] Myopia means that in the state of adjustment and relaxation, parallel light rays are focused in front of the retina after passing through the refractive system of the eyeball, and cannot be clearly imaged on the retina. Clinically, it can be divided into simple myopia and pathological myopia. High myopia refers to the refractive error of ≧-6D (children-4D), accompanied by elongated eye axis, retinal and choroidal atrophy and other degenerative lesions as the main features of refractive error. Pathological myopia is a kind of high myopia, also known as degenerative myopia, which is a retinal degenerative disease. The patient's diopter is greater than -6D and the eye axis is progressively elongated. The retinal pigment epi...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6883C12Q1/6858C12Q2600/156C12Q2600/106C12Q2600/16C12Q2531/113C12Q2537/143C12Q2533/101C12Q2565/627
Inventor 张煜婷聂苏秦张存柱孙蕊娟
Owner 陕西九州医学检验有限公司
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