Target gene capture sequencing method for fast diagnosis and identification diagnosis of BHD syndrome and application
A differential diagnosis and rapid diagnosis technology, which is applied in the fields of biotechnology and diagnostics, can solve problems such as high cost, low return, and long time consumption, and achieve the effects of reducing detection cost, improving accuracy, and improving flexibility
Pending Publication Date: 2018-09-04
NANJING UNIVERSTIY SUZHOU HIGH TECH INST +1
View PDF7 Cites 0 Cited by
- Summary
- Abstract
- Description
- Claims
- Application Information
AI Technical Summary
Problems solved by technology
However, the existing genetic diagnosis technology is relatively complicated, and if it is popularized in the clinic, it has the disadvantages of high cost but low return, relatively complicated operation and long time consumption.
Method used
the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View moreImage
Smart Image Click on the blue labels to locate them in the text.
Smart ImageViewing Examples
Examples
Experimental program
Comparison scheme
Effect test
Embodiment 1
[0059] 1. Experimental materials and methods
[0060] 1. Selection of target gene region and primer design
the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More PUM
Login to View More
Abstract
The invention discloses a target gene capture sequencing method for fast diagnosis and identification diagnosis of BHD syndrome and application. The invention provides a purpose of a gene panel to preparation of a kit for diagnosing and identifying BHD syndrome. The gene panel comprises four genes including FLCN, SERPINA1, TSC1 and TSC2. The enriching and capture gene region of the gene panel comprises an FLCN whole-genome sequence and an exon and exon-intron junction 50bp region of three genes of SERPINA1, TSC1 and TSC2. Through primer design, the long fragment multiplex PCR (polymerase chainreaction) is performed for second generation sequencing; various kinds of mutation forms can be detected; the effective diagnosis and identification diagnosis of BHD can be realized. The method has the advantages that the detection cost is reduced; the detection sensitivity and efficiency are improved.
Description
technical field [0001] The invention belongs to the field of biotechnology and diagnostics, and in particular relates to a target gene capture sequencing method and application for rapid diagnosis and differential diagnosis of BHD syndrome. Background technique [0002] Primary spontaneous pneumothorax (PSP) refers to the pathological state in which gas enters the negative pressure pleural cavity without obvious trauma or underlying disease, causing lung compression. Gas enters the patient's pleural cavity, causing atelectasis and hypotension Oxygenemia, severe breathing difficulties may occur, life-threatening. Pathologically, it is mostly believed that it is caused by damage to the subpleural bullae. About 11.5% of PSP patients were reported to have a family history, indicating that the occurrence of pneumothorax in these patients is related to genetics. Some familial PSP can be attributed to certain genetic mutations, such as specific genetic monogenic diseases caused b...
Claims
the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More Application Information
Patent Timeline
Login to View More
Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C12Q1/6883C12Q1/6806C12Q1/6869C12N15/11
CPCC12Q1/6806C12Q1/6869C12Q1/6883C12Q1/6886C12Q2600/156C12Q2600/16C12Q2531/113C12Q2537/143C12Q2535/122
Inventor 张昕昕易龙高千闵海燕朱成楚
Owner NANJING UNIVERSTIY SUZHOU HIGH TECH INST
Who we serve
- R&D Engineer
- R&D Manager
- IP Professional
Why Patsnap Eureka
- Industry Leading Data Capabilities
- Powerful AI technology
- Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.
© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com