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Mutant gene related to hereditary glomerular diseasse, and application thereof

A technology for glomerular diseases and mutation genes, applied in the field of human genetics and internal medicine and cardiovascular, to achieve the effect of reducing the birth of children with diseases

Active Publication Date: 2022-02-25
百世诺(北京)医学检验实验室有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] At present, a large number of FN1 gene mutation sites have been found, such as c.3452C>T, c.2674T>A, c.2638T>C, etc., but there are still unknown FN1 gene mutation sites, and further discovery of new FN1 gene mutations The site is of great significance for studying the pathogenesis of fibronectin glomerulopathy, early diagnosis of fibronectin glomerulopathy, or assisting clinical judgment

Method used

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  • Mutant gene related to hereditary glomerular diseasse, and application thereof
  • Mutant gene related to hereditary glomerular diseasse, and application thereof
  • Mutant gene related to hereditary glomerular diseasse, and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0017] Example 1 - Mutated Genes Associated with Inherited Glomerular Diseases

[0018] The mutated genes associated with hereditary glomerular diseases, the specific mutations are shown in Table 1 below:

[0019] Table 1 Specific detection results of mutated genes associated with hereditary glomerular diseases

[0020] Gene genomic location transcript number base change amino acid changes Reference Genome Version exon number FN1 chr2:216273077 NM_001306129 c.2372A>G p.Tyr791Cys GRCh37 / hg19 Exon16

[0021] (1) At genomic position chr2:216273076-chr2:216273125, the sequence of the wild-type FN1 gene is:

[0022] TGAACATCCCTGACCTGCTTCCTGGCCGAAAATACATTGTAAATGTCT T, It is the base at chr2:216273077 of the wild-type FN1 gene in the genome.

[0023] At the corresponding genomic location, the sequence of the mutated gene associated with the inherited glomerular disease is:

[0024] TGAACATCCCTGACCTGCTTCCTGGCCGAAAATACATTGTAAATGTCT T,...

Embodiment 2

[0033] Example 2 - Detection Kit for Mutated Genes Associated with Hereditary Glomerular Diseases

[0034] Detection kits for mutated genes related to hereditary glomerular diseases, including Taq DNA polymerase, PCR buffer and primers, etc. The specific primers are as follows:

[0035] Upstream primer (FN1-E16F, SEQ ID NO: 1): 5' AGCACATTACCTTTCTAGTCGCTT 3";

[0036] Downstream primer (FN1-E16R, SEQ ID NO:2): 5'AACTTGGTCCACAGTCGTGTC 3';

[0037] Length: 394bp.

[0038] The specific steps of using this kit to screen the mutated disease-causing gene FN1 are as follows: extract the DNA of the test subject, and then use the designed primer combination (SEQ ID NO:1 and SEQ ID NO:2) to amplify the FN1 gene to obtain For the PCR product, use 1.5% agarose gel electrophoresis to detect the PCR product, select 1000bp Marker as a reference, check and verify that the amplified product is the expected size, and finally sequence the PCR product. Obtained reference sequences from the NC...

Embodiment 3

[0039] Embodiment 3-family verification experiment

[0040] In this example, the method of family linkage analysis is used to verify the pathogenicity of the mutated genes related to hereditary glomerular diseases.

[0041] Specifically, three generations of members of a family with familial fibronectin glomerulopathy were selected, and the proband (female, 15 years old) in this family was clinically diagnosed with fibronectin glomerulopathy.

[0042] On the premise that the proband and his family members voluntarily sign the informed consent, 5-10mL whole blood samples will be sent, and a medical record database will be established to record the proband's condition and family status in detail. This study has been approved by the institutional ethics committee.

[0043] Description of the clinical profile of the proband:

[0044] Table 3 Clinical profile of the proband

[0045]

[0046]

[0047] The detection kit provided in Example 2 was used to carry out genetic det...

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Abstract

The invention relates to the technical field of human genetics and internal medicine cardiovascular systems, and concretely relates to a mutant gene related to hereditary glomerular diseases. Compared with a reference sequence of wild type FN1 gene coding DNA, the nucleotide sequence of the mutant gene is SEQ ID NO: 3; at a genome position chr2: 216273077, a base A is mutated into a base G; and the reference genome version is GRCh37. The invention also relates to application of the mutant gene related to the hereditary glomerular diseases in the preparation of a detection kit. The mutant gene provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; and the detection of the variant carrier provides prenatal guidance and genetic counseling for subjects, reduces the birth of child patients, and is of great significance in early diagnosis of fibronectin glomerulopathy or auxiliary clinical judgment.

Description

technical field [0001] The invention relates to the technical fields of human genetics and internal medicine cardiovascular, in particular to a mutation gene related to hereditary glomerular disease and its application. Background technique [0002] Fibronectin glomerulopathy (fibronectin glomerulopathy, FNG) was first reported by Tuttle et al. in 1987 as an autosomal dominant glomerular disease with familial inheritance. The main clinical manifestations are: renal hypertension, Proteinuria, microscopic hematuria, nephrotic syndrome, renal failure, end-stage renal disease, glomerular dilatation, mesangial and subendothelial granular or fibrous deposits, age of onset 3-65 years old, more common in young people, male and female All of them can be affected. It is reported that 84% of the patients have the first symptoms before the age of 50, and most of the elderly patients are women. Currently, there is no specific treatment, and symptomatic treatment is generally given. Cas...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/12C12N15/11
CPCC12Q1/6883C07K14/78C12Q2600/156
Inventor 刘哲梁庆渊赵娜娜赖开生刘昕超高璇李方玉侯青惠汝太
Owner 百世诺(北京)医学检验实验室有限公司
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