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

FN1 gene mutation and application thereof

A nucleic acid, optional technology, applied in the direction of application, genetic engineering, plant genetic improvement, etc., can solve problems that need to be further studied

Pending Publication Date: 2020-03-17
安徽华大医学检验所有限公司 +2
View PDF3 Cites 5 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] Therefore, the current research on fibronectin deposition glomerulopathy type 2 still needs to be in-depth

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
  • FN1 gene mutation and application thereof
  • FN1 gene mutation and application thereof
  • FN1 gene mutation and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0078] Example 1 Determination of the causative gene of fibronectin deposition glomerulopathy type 2

[0079] 1. Sample collection:

[0080] The inventor collected a patient with fibronectin deposition glomerulopathy type 2, whose pedigree is shown in figure 2 , in which, ⊙ indicates female carrier, and ■ indicates male patient.

[0081] 2. Whole exome sequencing

[0082] The inventors used the customized NimbleGen SeqCap EZ Exome (10M) combined with BGISEQ-500 high-throughput sequencing technology to figure 2 The exome sequences of patients in the indicated pedigrees of patients with fibronectin-depositing glomerulopathy type 2 were sequenced. See the experimental procedure image 3 ,details as follows:

[0083] 2.1 DNA extraction

[0084] collection image 3 The peripheral blood of the indicated fibronectin deposition glomerulopathy type 2 patients, using the OMEGA Blood DNAMidi Kit Whole Blood DNA Extraction Kit to extract the genomic DNA of each patient from the p...

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 present invention relates to an application of isolated nucleic acids, a gene mutation, and a separated protein in preparation of a kit, an application of a biological model in drug screening, a drug for treating fibronectin deposition glomerulopathy type 2, a system and a kit for screening a biological sample susceptible to fibronectin deposition glomerulopathy type 2, a construct and a recombinant cell. Wherein compared with a nucleotide sequence shown in SEQ ID NO: 1, the separated nucleic acid has the following mutation: c.6994G>C. By detecting whether the separated nucleic acid existsin the biological sample or not, whether the biological sample is susceptible to fibronectin deposition glomerulopathy type 2 or not can be effectively detected.

Description

technical field [0001] The present invention relates to the technical field. Specifically, the present invention relates to FN1 gene mutation and its application. Background technique [0002] Glomerulopathy with fibronectin deposits type 2 (Glomerulopathy with fibronectin deposits 2) is an autosomal dominant genetic disease with genetic heterogeneity, and penetrance has a certain correlation with age. It is characterized by proteinuria, microscopic hematuria, hypertension, and massive glomerular deposition of fibronectin, leading to end-stage renal failure. Although some pathogenic genes of fibronectin deposition glomerulopathy type 2 have been discovered, there are still a considerable number of unknown pathogenic gene loci. [0003] Therefore, the current research on fibronectin deposition glomerulopathy type 2 still needs to be further studied. Contents of the invention [0004] The present invention aims to solve at least one of the technical problems existing in t...

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): C12N15/12C07K14/78C12Q1/6883G01N33/68C12M1/34A61K45/00A61P13/12
CPCC07K14/78C12Q1/6883G01N33/6893A61K45/00A61P13/12C12Q2600/156C12Q2600/136G01N2333/78G01N2800/347
Inventor 杨昀毛良伟张宁芝宛杨李浩孙岩袁雯杜丽缺王海荣
Owner 安徽华大医学检验所有限公司
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