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Mutated genes associated with hereditary glomerular diseases and their applications

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: 2022-07-29
百世诺(北京)医学检验实验室有限公司
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  • Summary
  • 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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  • Mutated genes associated with hereditary glomerular diseases and their applications
  • Mutated genes associated with hereditary glomerular diseases and their applications
  • Mutated genes associated with hereditary glomerular diseases and their applications

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

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

[0018] Mutated genes associated with hereditary glomerular diseases, 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 change reference genome version exon number FN1 chr2:216273077 NM_001306129 c.2372A>G p.Tyr791Cys GRCh37 / hg19 Exon16

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

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

[0023] The sequences of the mutated genes associated with hereditary glomerular diseases at the corresponding genomic locations are:

[0024] TGAACATCCCTGACCTGCTTCCTGGCCGAAAATACATTGTAAATGTCT T, is the base ...

Embodiment 2

[0033] Example 2 - Detection kit for mutated genes associated with hereditary glomerular diseases

[0034] Detection kit for mutated genes associated with 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'AGCACATTACCTTCTAGTCGCTT 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 pathogenic gene FN1 are: extracting the DNA of the test subject, and then using the designed primer combination (SEQ ID NO: 1 and SEQ ID NO: 2) to amplify the FN1 gene to obtain PCR products were detected by 1.5% agarose gel electrophoresis, and 1000bp Marker was selected as a reference to detect and verify that the amplified products were of the expected size, and finally the PCR products were sequenced. The reference sequence obtained from the ...

Embodiment 3

[0039] Example 3-Family Verification Experiment

[0040] In this example, the pedigree linkage analysis method was used to verify the pathogenicity of the mutated gene related to hereditary glomerular disease.

[0041] Specifically, three generations of members in a familial fibronectin glomerulopathy family were selected, and the proband (female, 15 years old) in the 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 information in detail. This study has been approved by the ethics committee of our institution.

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

[0044] Table 3 Clinical profile of probands

[0045]

[0046]

[0047] The FN1 gene of the proband and his family members was genetically detected u...

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Abstract

The invention relates to the fields of human genetics and medical cardiovascular technology, in particular to a mutant gene related to hereditary glomerular diseases. Compared with the reference sequence of the wild-type FN1 gene encoding DNA, the nucleotide sequence of the mutant gene is SEQ ID NO: 3; base A is mutated to base G at genomic position chr2:216273077; reference genome version is GRCh37. The present invention also relates to the application of the above-mentioned mutant gene related to hereditary glomerular disease in the preparation of a detection kit. The mutated gene provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; the carrier of the mutation is detected, the subject is provided with prenatal and postnatal care guidance and genetic counseling, the number of children born is reduced, and the early stage of fibronectin glomerulopathy is affected. Diagnosis, or auxiliary clinical judgment is of great significance.

Description

technical field [0001] The present invention relates to the field of human genetics and medical cardiovascular technology, in particular to a mutated gene related to hereditary glomerular disease and its application. Background technique [0002] Fibronectin glomerulopathy (FNG) was first reported by Tuttle et al. in 1987 as a familial autosomal dominant glomerular disease with the main clinical manifestations: renal hypertension, Proteinuria, microscopic hematuria, nephrotic syndrome, renal failure, end-stage renal disease, glomerular dilatation, mesangial and subendothelial granular or fibrous deposits, age 3 to 65 years old, more common in young people, male and female All patients can be affected. It is reported in the literature that 84% of the patients have the first symptoms before the age of 50, and the elderly patients are mostly women. At present, there is no specific treatment, and symptomatic treatment is generally given. Castelletti et al reported that 40% of ...

Claims

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Application Information

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Patent Type & Authority Patents(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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