Child glaucoma related gene chip, preparation method and application thereof

A gene chip and glaucoma technology, applied in the field of biomedicine, can solve the problem that the pathogenic gene or mutation is not yet clear, and achieve the effect of improving the clinical medical level, improving the prognosis, and reducing the missed diagnosis and misdiagnosis.

Inactive Publication Date: 2018-10-19
EYE & ENT HOSPITAL SHANGHAI MEDICAL SCHOOL FUDAN UNIV
View PDF6 Cites 16 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

So far, more than 200 pathogenic genes related to childhood glaucoma have been identified in the world, and with the deepening of research, the number is increasing year by year, but the pathogenic genes or mutations

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
  • Child glaucoma related gene chip, preparation method and application thereof
  • Child glaucoma related gene chip, preparation method and application thereof
  • Child glaucoma related gene chip, preparation method and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0070] In this embodiment, Hiseq sequencing technology is used to detect the genomic DNA in the plasma of the subject. The specific steps are as follows:

[0071] 1. According to the instructions, use Roche's High Pure PCR Template Preparation Kit to extract the genomic DNA in the plasma of the subject.

[0072] 2. Use an ultrasonic breaker to break the genomic DNA into small fragments of about 500bp.

[0073] In this example, 3 μg of DNA was fragmented using a Covaris sonicator according to standard operations.

[0074] 3. Use Agencourt AMPure XP magnetic beads to purify the sample, the volume ratio of magnetic beads to sample is 1.8:1, and elute with 50 μl nuclease-free water. The specific operation is as follows:

[0075]

[0076] 4. Use End Prep Enzyme Mix (including T4 DNA polymerase, Klenow DNA polymerase, T4PNK, TaqDNA polymerase, Klenowexo-) for end repair and 3' end addition. The reaction conditions are: 37°C, 30min; 72°C, 30min. The reaction system is as follow...

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 belongs to the field of biomedicines and relates to a gene chip hybridization probe for screening disease-causing gene mutations of child glaucoma, and a design method and application thereof. The invention provides a preparation method of a gene chip and the gene chip hybrid probe related to the disease-causing gene mutations of the child glaucoma, and the gene chip hybrid probe targets genes covering 289 pathogenic genes highly associated with the child glaucoma. The design method of the gene chip hybrid probe is as follows: designing and synthesizing a child glaucoma pathogenic gene hybrid probe, and integrating the child glaucoma pathogenic gene hybrid probe into a gene chip; using the prepared gene chip to capture a genome target region and performing deep sequencing; and performing bioinformatics analysis on screening data to screen candidate pathogenic genes and mutations. A high-efficiency screening technique for screening the disease-causing gene mutations of thechild glaucoma is established, and is helpful for clinically determining the mutant genes of the child glaucoma.

Description

technical field [0001] The invention belongs to the field of biomedicine, and relates to a gene chip for screening children's glaucoma-causing gene mutations, a hybridization probe design method thereof and its application in screening children's glaucoma-causing gene mutations. Background technique [0002] Glaucoma is a kind of irreversible blinding eye disease with progressive optic nerve damage related to pathological increase of intraocular pressure, and then affecting visual function. Generally, glaucoma is an age-related disease, and the incidence rate increases significantly after the age of 40. However, childhood glaucoma, also known as developmental glaucoma and congenital glaucoma, often has ocular abnormalities at birth, and most of them cause irreversible visual function damage in childhood. The condition changes significantly before adulthood, seriously endangering the health of infants and adolescents. Vision development, this defect can lead to lifelong visu...

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): C12Q1/6883C12Q1/6869C40B40/06
CPCC12Q1/6869C12Q1/6883C12Q2600/156C40B40/06C12Q2531/113C12Q2535/122
Inventor 陈宇虹王丽陈雪莉孙兴怀
Owner EYE & ENT HOSPITAL SHANGHAI MEDICAL SCHOOL FUDAN UNIV
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Try Eureka
PatSnap group products

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

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap