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PDSS2 pathogenic mutant gene of nephrotic syndrome patient and detection reagent of PDSS2 pathogenic mutant gene

A technology for nephrotic syndrome and mutated genes, which is applied in the field of genetic disease gene detection, can solve the problems of long sequencing time, high detection cost, high cost, etc., and achieves the effect of low price and reduced economic burden.

Pending Publication Date: 2022-06-07
THE SECOND AFFILIATED HOSPITAL ARMY MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, this method takes a long time to sequence, often takes 6-7 working days, and is relatively expensive, and the detection cost is high

Method used

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  • PDSS2 pathogenic mutant gene of nephrotic syndrome patient and detection reagent of PDSS2 pathogenic mutant gene
  • PDSS2 pathogenic mutant gene of nephrotic syndrome patient and detection reagent of PDSS2 pathogenic mutant gene
  • PDSS2 pathogenic mutant gene of nephrotic syndrome patient and detection reagent of PDSS2 pathogenic mutant gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0027] Example 1 Symptoms of patients with nephrotic syndrome PDSS2 pathogenic mutation gene and discovery of pathogenic mutation gene in patients with nephrotic syndrome of the present invention

[0028] In a long-term clinical study, the inventor found a patient from the Nephrology Department of Xinqiao Hospital in a core consanguineous family with symptoms: proteinuria, hematuria, thin basement membrane, and a suspected NS patient. Through full sequence sequencing and comparison, the PDSS2 pathogenic mutation gene of the patient with nephrotic syndrome of the present invention is found.

[0029] The original sequence of PDSS2 gene is shown in SEQ ID NO.3. in,

[0030] ATAAATTCTGATGTCCAGCCTTTTATTAAAGAAAAGACCAGTGACTCCATGACTTTTAATCTAAACTCAGCTCCTGTAGTCTTACATCAGGAATTTCTTGGAA G The AGATTTGTGGGATTAAACAGATCGGAGAG part is the sixth exon, and this sequence includes the mutant gene site c.980(exon6)G of the present invention.

Embodiment 2

[0031] Example 2 Design and synthesis of amplification primers for the PDSS2 pathogenic mutation gene region of the present invention

[0032] The PDSS2 genome sequence was obtained from the NCBI database, and Primer software was used to design the detection primers. The primer sequences used are as follows. Primers were synthesized from Beijing Liuhe Huada Gene Co., Ltd. and purified by PAGE.

[0033] Amplification primers for PDSS2 gene mutation region

[0034] P1: TTCTGATGTCCAGCCTTTTTAT (SEQ ID NO. 1)

[0035] P2: TTAGCATTCACCACAGGCACT (SEQ ID NO. 2)

[0036] Sanger sequencing primer: P1.

Embodiment 3

[0037] Example 3: Detection reagent for PDSS2 pathogenic mutation gene of the present invention, and detection and verification of pathogenic mutation gene

[0038] 1. Obtain clinical samples and set up experimental and control groups

[0039] 1) Experimental group

[0040] Patient 1, the sample was from the Nephrology Department of Xinqiao Hospital, symptoms: proteinuria, hematuria, thin basement membrane, suspected NS patient.

[0041] Patient 2, the sample was from the Nephrology Department of Xinqiao Hospital, symptoms: proteinuria, hematuria, thin basement membrane, suspected NS patient.

[0042] 3) Control group

[0043] Two normal subjects were selected as the control group, with sample numbers: 3 and 4.

[0044] 2. Experimental scheme and steps

[0045] 1. Screening test:

[0046] The diagnostic reagent of the present invention includes 1) a tester's sample genomic DNA extraction kit; 2) a PCR amplification kit: using primers P1 and P2 to amplify the tester's geno...

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Abstract

The invention provides a PDSS2 pathogenic mutant gene of a nephrotic syndrome patient and a detection reagent of the PDSS2 pathogenic mutant gene, the mutation is located in a sixth exon region of the PDSS2 gene, and the nucleotide sequence at the 980th site is replaced by thymine from guanine, namely PDSS2, c.980 (exon6) Ggt; t. The mutation can cause coding errors of the PDSS2 gene, so that the 327 amino acid is changed from arginine to isoleucine, and the structure and function of the protein are changed. The detection reagent disclosed by the invention can be used for effectively and quickly detecting the pathogenic mutation of the PDSS2 and is low in price.

Description

technical field [0001] The invention relates to the field of genetic disease gene detection, in particular to a nephrotic syndrome patient PDSS2 pathogenic mutation gene and a detection reagent thereof. Background technique [0002] Nephrotic syndrome (NS) is a common chronic kidney disease with typical clinical features of massive proteinuria, hypoalbuminemia and generalized edema. About 20% of NS patients are refractory to hormone and immunosuppressive therapy, and 36%-50% of these patients will develop end-stage renal disease within 10 years. At present, the commonly used clinical renal biopsy cannot provide accurate treatment guidance for the above problems from the pathological diagnosis. [0003] In recent years, more than 50 gene mutations related to the pathogenesis of NS have been identified one after another, making the genetic diagnosis of nephrotic syndrome possible. The screening of these genes can help clinicians complete the "gene diagnosis" of NS, which can...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/686C12N15/11
CPCC12Q1/6883C12Q1/686C12Q2600/156C12Q2535/101Y02A50/30
Inventor 赵景宏程金波黄英辉肖堂利章波
Owner THE SECOND AFFILIATED HOSPITAL ARMY MEDICAL UNIV
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