Detection kit of gene mutations associated with phenylketonuria
A detection kit and phenylketonuria technology are applied in the field of phenylketonuria-related gene mutation detection kits, which can solve problems such as inability to meet medical research and clinical applications, and achieve cost reduction, high throughput, and rapid detection methods. Effect
Inactive Publication Date: 2017-03-15
中国人民解放军新疆军区总医院 +1
View PDF1 Cites 9 Cited by
- Summary
- Abstract
- Description
- Claims
- Application Information
AI Technical Summary
Problems solved by technology
Since multiple gene mutations can lead to disease, traditional Sanger sequencing and other technologies are far from meeting the needs of medical research and clinical applications
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 Construction
[0029] The present invention will be described in detail below with reference to the accompanying drawings and in combination with embodiments.
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 detection kit of gene mutations associated with phenylketonuria. The detection kit comprises ddH2O, 10*buffer (Takara), 2*GC buffer I, dNTP, MgCl2, HSTaq, a multiple PCR mixed primer liquid and an Illumina I5 / I7 primer. The detection kit has a wide detection range, comprehensively detects phenylketonuria caused by five gene defects, sequencing detection is conducted on the upstream 500bp of a genetic transcription start site, 5'UTR, a coding region, 8pp intron sequences of a splice site and transcription terminators, it is predicted that the mutation detection rate can reach 95% or above, and the detection kit can be better applied to clinical practice.
Description
technical field [0001] The invention relates to a detection kit for gene mutation related to phenylketonuria. Background technique [0002] Phenylketonuria (Phenylketonuria, PKU) is one of the most common amino acid metabolic disorders, an autosomal recessive genetic disease. Children with this condition are normal at birth. Symptoms usually appear at 3 to 6 months, and symptoms are obvious at 1 year old, as follows. ① Nervous system: mental retardation is the most prominent, IQ is lower than normal, and there are abnormal behaviors, such as excitement, depression, etc. There may be petit mal seizures, and a few show increased muscle tone and tendon hyperreflexia. ②Skin: After a few months of birth, due to insufficient melanin synthesis, the hair turns from black to yellow, and the skin is fair. Skin eczema is more common. ③Body odor: Due to the excretion of more phenylacetic acid in urine and sweat, there may be obvious mouse urine odor. [0003] Phenylalanine (Phenyl...
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): C12Q1/68
CPCC12Q1/6869C12Q1/6883C12Q2600/156C12Q2600/16C12Q2531/113C12Q2535/122C12Q2537/143
Inventor 王瑞姜正文王颖关丽娜余伍忠刘波邹红云杨锋
Owner 中国人民解放军新疆军区总医院
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