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
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  • 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

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  • 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...

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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

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Application Information

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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
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