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

Gene mutant and application thereof

A gene and application technology, applied in the field of detection kits for non-syndromic hereditary deafness, drugs for the treatment of non-syndromic hereditary deafness, constructs and recombinant cells

Active Publication Date: 2020-03-13
GENERAL HOSPITAL OF PLA +1
View PDF3 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0008] However, due to the strong genetic heterogeneity of hereditary deafness, there are still a large number of pathogenic genes that have not been identified, so there is still a lot of room for research in this area, and research on gene identification still needs to be strengthened

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
  • Gene mutant and application thereof
  • Gene mutant and application thereof
  • Gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0080] The inventor used exon sequencing and linkage mapping technology to screen candidate mutations in a family with non-comprehensive autosomal dominant deafness, and through bioinformatics analysis, screen non-pathogenic nucleotide mutations, reduce the number of candidate mutations, and design candidate mutations Primer, PCR amplification, product purification, Sanger sequencing, candidate mutation detection for family members and normal control population, co-separation analysis, to clarify the relationship between gene mutation and disease. Compared with homologous genes in other organisms, biological software predicts the pathogenicity of mutations, discovers the relationship between the COL4A2 gene and the auditory system through mouse inner ear expression, and analyzes the expression of polypeptides. The specific method steps are as follows:

[0081] 1. Sample collection:

[0082] The inventor collected a family of Chinese Han people with hereditary deafness with 4 conse...

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 nucleic acid related to non-syndromic hereditary hearing loss, a gene mutant and an application thereof. Compared with a wild type COL4A2 gene, the nucleic acid related to thenon-syndromic hereditary hearing loss has c.4951C>T mutation. The nucleic acid is a new related pathogenic nucleic acid of non-syndromic hereditary hearing loss, and by detecting whether the nucleic acid exists in a biological sample or not, whether the biological sample suffers from the non-syndromic hereditary hearing loss or not can be effectively detected. The discovery of the nucleic acid orpathogenic mutation site further expands and perfects the detection and research of the hereditary hearing loss disease, and provides a new detection site, a new detection method and a new detection way for the diagnosis or treatment of the disease.

Description

Technical field [0001] The present invention relates to the field of biology. Specifically, the present invention relates to gene mutants and their applications. More specifically, the present invention relates to nucleic acids, gene mutations, polypeptides, biological models, drugs for the treatment of non-syndromic hereditary deafness, and applications. For detecting non-syndromic hereditary deafness kits, constructs and recombinant cells. Background technique [0002] Deafness (hearing loss; deafness) is a general term for a class of hearing dysfunction diseases. In the world, deafness is a common and frequently-occurring disease. The disease can be caused by the sound transmission or sensory dysfunction of the auditory system, or by the auditory nerve in the auditory conduction pathway or the central nervous system at all levels. The etiology is extremely complex and diverse, such as heredity, infection, trauma, improper drug application, immune disease, physiological funct...

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
Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/6883G01N33/68A61K45/00A61K49/00A61P27/16
CPCA61K45/00A61K49/0008A61P27/16C07K14/47C12Q1/6883C12Q2600/136C12Q2600/156G01N33/6893G01N2333/47G01N2800/14
Inventor 袁永一林琼芬戴朴管李萍高雪谌于蓝张建国
Owner GENERAL HOSPITAL OF PLA
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