Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

High myopia gene detection kit

A highly myopic, kit-based technology, applied in the determination/examination of microorganisms, DNA/RNA fragments, recombinant DNA technology, etc. Good market application prospects, the effect of improving coverage and detection rate

Pending Publication Date: 2021-10-12
BEIJING TONGREN HOSPITAL AFFILIATED TO CAPITAL MEDICAL UNIV
View PDF1 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] However, there is still no tool that can comprehensively screen high myopia. The existing genetic testing kits for high myopia only include a few SNP sites of known genes or susceptibility genes
The inventor found that these specific sites can only be detected in a small number of patients, and the pathogenic mutations of the vast majority of patients with high myopia are still unclear, which is why the detection rate of the existing kits is extremely low and it is difficult to popularize The main reason

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • High myopia gene detection kit
  • High myopia gene detection kit
  • High myopia gene detection kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0057] Example 1. Obtaining pathogenic / susceptible gene sequences related to high myopia

[0058] 1. Screening and functional verification of pathogenic genes related to high myopia

[0059] The specific screening and determination process of high myopia pathogenic genes is as follows:

[0060] Since high myopia is recognized to be caused by a combination of genetic and environmental factors, we collected sporadic early-onset children with high myopia (high myopia before the age of six, with less environmental factors) core families (including patients and normal parents), Collect 3ml of peripheral venous blood from patients and healthy parents, extract whole-genome DNA and test its concentration and purity (quality control standard: DNA concentration ≥ 50ng / ul, total sample mass greater than or equal to 2.0ug, OD260 / 280 between 1.8 and 2.0), Trio-based WES whole-exome sequencing was performed on qualified DNA samples, and reference sequence alignment, variation annotation,...

Embodiment 2

[0094] Embodiment 2, the preparation of kit of the present invention

[0095] The kit of the present invention is prepared using conventional prior art. For example: 1. Refer to the latest version of the human genome reference sequence GRCh38 / hg38 to obtain the base sequences of the exon coding regions and intron junction regions of the above 6 categories of 204 target genes; 2. For the non-repetitive regions in each region The probe sequence is designed for the region, and the length of each probe is set at about 20 to 100 bases, such as 78 bp, based on the hybridization kinetic data. The sequence covered by each probe is designed to move along the genome position, and the size of the move is ≤3 bp ; 3. Using in situ synthesis technology, a large number of designed probes are synthesized on the chip, and a large number of biotin-labeled probes are amplified by PCR method to become a gene capture chip.

Embodiment 3

[0096] Embodiment 3, the use of kit of the present invention

[0097] According to the type of subjects, the kit of the present invention can be used for the screening of high myopia pathogenic genes, the susceptibility judgment of myopia patients developing high myopia, or the possibility prediction of healthy subjects developing high myopia.

[0098] Specifically, it can be found in figure 1 The kits of the invention are used in the methods shown.

[0099] 1. Collection of clinical data of subjects

[0100] Collect the current medical history, past history and family history of healthy subjects or patients with myopia or high myopia, and improve eye examination (uncorrected visual acuity, best corrected visual acuity, corneal curvature, eye axis, eye B-ultrasound, fundus photography, OCT, etc.) , to clarify the clinical diagnosis.

[0101] 2. Collection of genetic resources of subjects

[0102] 3 ml of peripheral venous blood was collected from the proband and first-de...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention discloses a high myopia gene detection kit. The kit comprises a first probe for capturing a first target gene and a second probe for capturing a second target gene, the first target gene is a high myopia pathogenic gene captured through exon sequencing, and the second target gene is a mutant gene detected from a patient with systemic systemic syndrome or hereditary eye disease accompanied by high myopia. The kit can increase the coverage rate and the detection rate of molecular diagnosis, can be used for early screening of high myopia, auxiliary clinical diagnosis and screening of susceptible high-risk patients, provides a theoretical basis for research of early accurate diagnosis, early prevention and control and treatment of diseases, and has a good market application prospect.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a high myopia gene detection kit. Background technique [0002] Myopia is a refractive error caused by environmental and genetic factors, and its incidence is very high. The diopter of high myopia exceeds -6.0D, and / or the eye axis exceeds 26mm, which is a more serious type of refractive error. As the course of the disease progresses, the patient's eye axis grows pathologically and progressively, and the degree of myopia continues to deepen. There are myopic arcs on the temporal side of the optic disc, leopard-shaped fundus, retinal choroidal atrophy, Fuchs spots, and choroidal neovascularization in the fundus. This eye complication, such as retinal detachment, concurrent cataract, vitreous opacity, etc., can lead to severe impairment of visual function or even blindness. micro. High myopia seriously damages the visual function of patients, and also has a great impact on the men...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
IPC IPC(8): C12Q1/6883C12Q1/6837C12Q1/6827C12N15/11
CPCC12Q1/6883C12Q1/6837C12Q1/6827C12Q2600/156C12Q2565/501
Inventor 金子兵
Owner BEIJING TONGREN HOSPITAL AFFILIATED TO CAPITAL MEDICAL UNIV
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com