Single-gene genetic kidney disease gene combined screening method, kit and preparation method of kit

A hereditary and kidney disease technology, applied in the field of screening kits for various hereditary kidney diseases and its preparation

Inactive Publication Date: 2019-01-08
RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE +1
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  • Abstract
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  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, there is currently no standardized clinically proven diagnostic reagent for genetic testing of kidney disease in China.

Method used

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  • Single-gene genetic kidney disease gene combined screening method, kit and preparation method of kit
  • Single-gene genetic kidney disease gene combined screening method, kit and preparation method of kit
  • Single-gene genetic kidney disease gene combined screening method, kit and preparation method of kit

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Experimental program
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Embodiment Construction

[0089] The present invention will be further described below in conjunction with the accompanying drawings and embodiments.

[0090] Abbreviations and definitions:

[0091] SNP single nucleotide polymorphism

[0092] Indel insertion-deletion marker

[0093] gDNA Whole Genomic DNA

[0094] The monogenic hereditary nephropathy gene screening kit provided by the present invention comprises the specific oligokaryon of all exon sequences in 706 disease-causing genes or disease susceptibility genes related to hereditary nephropathy shown in Table I nucleotide capture probes.

[0095] Table I: List of genetic screening for monogenic hereditary kidney disease

[0096]

[0097]

[0098]

[0099]

[0100] hereditary nephrotic syndrome

[0101] Hereditary nephrotic syndrome refers to nephrotic syndrome caused by mutations in genes encoding glomerular filtration barrier protein or other related genes. Such diseases can involve various parts of the nephron, resulting in g...

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Abstract

The invention discloses a single-gene genetic kidney disease gene combined screening method, a kit and a preparation method of the kit. The kit comprises a probe for capturing specific oligonucleotides of all the exon sequences in various genetic kidney disease related disease-causing genes or disease susceptible genes. A whole-genome DNA library of a subject is constructed, a target gene sequenceis captured by the prepared single-gen genetic kidney disease gene screening kit, a sample is detected through a double-end 150bp sequencing mode of a high-flux sequencing platform, and a data resultis analyzed through bioinformatics, so that mutation information sites of genetic kidney disease related genes can be found out rapidly and accurately, the aim of gene diagnosis is fulfilled, and theexon area of all the genetic kidney disease genes which are known at present can be covered.

Description

technical field [0001] The invention relates to a gene screening method, a kit and a preparation method thereof, in particular to a kit for screening various hereditary kidney diseases and a preparation and use method thereof. Background technique [0002] Chronic kidney disease (CKD) is a prominent global health problem. Epidemiological studies show that the incidence rate of CKD in my country is 10.8%, and that in the United States is 13.1%. If CKD is not effectively controlled, it will develop into end-stage renal failure (ESRD), which will bring a heavy burden to patients, families and society. Monogenic hereditary kidney disease is an important cause of CKD. For example, autosomal dominant polycystic kidney disease (ADPKD) has an incidence rate of 1:500 in adult autopsies, accounting for about 10% of ESRD, and is the fourth cause of ESRD in my country. . Thin basement membrane disease (TBMD) is another monogenic hereditary kidney disease with a high incidence rate. Sin...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 谢静远陈楠熊玉宇杨福兰
Owner RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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