Method for detecting TRPC6 gene pathogenic mutation by using target gene sequencing

A target gene and sequencing technology, applied in genomics, microbial determination/inspection, biochemical equipment and methods, etc., can solve the problems of low sequencing throughput, difficulty in meeting sequencing requirements, etc., and achieve rapid and effective results.

Pending Publication Date: 2021-06-11
AFFILIATED HOSPITAL OF YOUJIANG MEDICAL UNIV FOR NATTIES
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  • Abstract
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  • Application Information

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Problems solved by technology

[0003] The traditional Sanger sequencing method has a low sequencing throughput, which is difficult to meet

Method used

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  • Method for detecting TRPC6 gene pathogenic mutation by using target gene sequencing
  • Method for detecting TRPC6 gene pathogenic mutation by using target gene sequencing
  • Method for detecting TRPC6 gene pathogenic mutation by using target gene sequencing

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Embodiment

[0034]The method for detecting the pathogenic mutation of the TRPC6 gene by target gene sequencing, specifically the method for detecting the pathogenic mutation of the TRPC6 gene in children with primary nephrotic syndrome in Zhuang nationality in China by using the target gene sequencing technology, comprises the following steps:

[0035] 1 Objects and methods

[0036] 1.1 Research objects The venous blood samples of 134 children with nephrotic syndrome were collected from the outpatient and ward of the Affiliated Hospital of Youjiang Medical College for Nationalities from July 2015 to September 2017, and the diagnosis met the diagnostic criteria of primary nephrotic syndrome in children [5] , and excluded glomerulonephritis, (hepatitis B, systemic lupus erythematosus, purpura, drugs, etc.) 1.4) years old, 107 healthy children served as controls, healthy children who received physical examination at the same time, 76 males and 31 females, aged 3.8-14.2 years, average (8.5±0....

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Abstract

The invention discloses a method for detecting TRPC6 gene pathogenic mutation by using target gene sequencing, which comprises the following steps: carrying out TRPC6 gene sequencing on children with primary nephrotic syndrome by using a next-generation sequencing technology, and carrying out related bioinformatics analysis. The method comprises the following steps: designing 13 exon region specific capture probes of TRPC6, hybridizing with a genome DNA library, enriching DNA fragments of a target genome region, sequencing by using an illumina Nextseq second-generation sequenator, comparing with normal Zhuang children, and determining mutation sites through data analysis. Data analysis shows that c.172C>T(p.R58W) heterozygous mutation on the second exon can cause related protein expression and function abnormality, and is considered to be pathogenic mutation of children of Guangxi Zhuang nationality in China.

Description

【Technical field】 [0001] The invention relates to the technical field of gene sequencing, in particular to a method for detecting pathogenic mutations of TRPC6 gene by using target gene sequencing, and in particular to a method for detecting pathogenic mutations of TRPC6 gene in children with primary nephrotic syndrome in Zhuang nationality in China by using target gene sequencing technology. 【Background technique】 [0002] Nephrotic syndrome (NS) is a clinical syndrome characterized by a series of pathophysiological changes due to the increased permeability of the glomerular filtration membrane to plasma proteins and the loss of a large amount of plasma proteins from urine. Primary nephritic syndrome (PNS) in children is a type of immune-mediated glomerular disease that seriously affects the normal growth and development of children, and has a serious impact on children's life, health and quality of life. The study of kidney disease-causing genes has become a hot spot in th...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6869G16B20/50G16B20/30G16B25/20
CPCC12Q1/6883C12Q1/6869G16B20/50G16B20/30G16B25/20C12Q2600/156C12Q2600/16C12Q2531/113C12Q2535/122C12Q2537/143C12Q2565/125
Inventor 刘运广李根亮林娜黄云峰曹珊
Owner AFFILIATED HOSPITAL OF YOUJIANG MEDICAL UNIV FOR NATTIES
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