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Kit for genetic diagnosis of hormone-resistant nephrotic syndrome of children

A technology for nephrotic syndrome and hormone resistance, applied in the field of medical molecular biology, can solve the problems of small number of related genes, lack of pertinence, and incompleteness, and achieve the effects of strong specificity, convenient result analysis, and strong pertinence

Pending Publication Date: 2022-08-02
ZHEJIANG UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There is currently no genetic testing panel specifically for steroid-resistant nephrotic syndrome
However, other kidney disease-related panels lack specificity and contain a small number of related genes, generally 30 to 50 genes, which are not comprehensive and easy to miss diagnosis

Method used

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  • Kit for genetic diagnosis of hormone-resistant nephrotic syndrome of children
  • Kit for genetic diagnosis of hormone-resistant nephrotic syndrome of children
  • Kit for genetic diagnosis of hormone-resistant nephrotic syndrome of children

Examples

Experimental program
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Effect test

Embodiment 1

[0018] The kit of the invention is composed of an enzyme cleavage library building reagent, a hybridization rinsing reagent 1, a hybridization rinsing reagent 2, a capture probe, a capture magnetic bead, a joint blocking reagent, and a label amplification primer. Among them, the enzyme digestion library building reagents include end repair buffer, end repair working enzyme, adapter ligation buffer, adapter ligation working enzyme, PCR polymerase and buffer; Inhibitors, Post-PCR working enzymes and buffers, and Post-PCR primers; Hybridization Wash Reagent 2 contains Probe and Library Hybridization Buffer, Magnetic Beads and Library Binding Buffer, Wash Buffer 1, Wash Buffer 2; Capture Magnetic The beads are streptavidin magnetic beads. Reagents for enzyme digestion library building, hybridization washing reagent 1, hybridization washing reagent 2, capture magnetic beads, adapter blocking reagents, and tag amplification primer reagents were purchased from Aiji Taikang (Jiaxing) ...

Embodiment 2

[0028] Probe Design:

[0029] 2.1.1 Select 94 nuclear genes and mitochondrial genomes related to nephrotic syndrome and proteinuria: NPHS2, NPHS1, PLCE1, CD2AP, TRPC6, CRB2, FAT1, WT1, LMX1B, NUP93, NUP107, NUP205, XPO5, E2F3, NXF5 , PAX2, LMNA, WDR73, ACTN4, INF2, MYO1E, MAGI2, ANLN, PTPRO, EMP2, CUBN, PODXL, ARHGAP24, ARHGDIA, DLC1, KANK1, KANK2, KANK4, ITSN1, ITSN2, SYNPO, TNS2, COQ2, COQ6, PDSS2 , SCARB2, PMM2, ALG1, TTC21B, CDK20, CFH, DGKE, LAMB2, ITGB4, ITGA3, COL4A3, COL4A4, COL4A5, GAPVD1, ANKFY1, OCRL, SMARCAL1, MYH9, COQ8B, SGPL1, KANK2, NUP85, NUP133, NUP160, TBC1D8B , AVIL, APOL1, CD151, LAGE3, LCAT, MAFB, OSGEP, TP53RK, TPRKB, WDR4, ZMPSTE24, EXT1, NEIL1, FOXP3, AMN, LRP2, GPC5, CYP11B2, CLCN5, FN1, CFHR5, B2M, LYZ, APOA1, FGA , MUC1, STAT2, NOS1AP, KIRREL1 and mitochondrial genome.

[0030] 2.1.2 The probes are RNA probes with stronger affinity than DNA probes. The average length of the entire probe length was 100 nt. According to the principle of base compl...

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Abstract

The invention provides a kit for detecting hormone-resistant nephrotic syndrome genes of children. The kit consists of an enzyme digestion library building reagent, a hybridization rinsing reagent 1, a hybridization rinsing reagent 2, a capture probe, a capture magnetic bead, a joint blocking reagent and a tag amplification primer. The kit is used for detecting the hormone-resistant nephrotic syndrome gene of children, and has the characteristics of simplicity, convenience, rapidness and low cost. Compared with the traditional whole exon detection, the method has the advantages of low cost, relatively small data volume and convenience and quickness in result analysis. Compared with other kidney diseases panel, the gene has the advantages of wider gene coverage and stronger specificity in the aspect of children hormone-resistant nephrotic syndrome. The probe is good in performance index, high in coverage degree and free of missing detection. According to actual measurement, the coverage rate of 17 samples is 100%, the T20X coverage rate reaches 99.99% or above, and practical application can be met. And by combining with ACMG rating, the method can be applied to scientific research and clinical application.

Description

technical field [0001] The invention belongs to the field of medical molecular biology and relates to a kit, in particular to a gene detection kit for hormone-resistant nephrotic syndrome in children. The application of the kit in the gene diagnosis of hormone-resistant nephrotic syndrome in children, and the method of using the kit for the detection of hormone-resistant nephrotic syndrome-related genes in children. Background technique [0002] Primary nephrotic syndrome is a common glomerular disease in childhood. Among them, steroid-resistant nephrotic syndrome (SRNS) is a complex disease, and the urine protein cannot be turned negative after hormone therapy. It is prone to various complications and drug side effects, and the prognosis is poor. The etiology and pathogenesis of SRNS are unknown, and may be related to genetic, immune abnormalities, and complications such as infection and thrombosis. [0003] In recent years, studies have shown that nearly 1 / 3 of neonatal-...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883Y02A50/30
Inventor 傅海东毛建华王晶晶刘飞叶青沈辉君李东燕顾伟忠
Owner ZHEJIANG UNIV