Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

Kit for detecting SCN1A gene copy number variation

A gene copy number, SCN1A.1.R technology, applied in the field of biomedical detection, can solve the problem of not finding the report of SCN1A gene copy number variation

Pending Publication Date: 2022-03-25
CHANGSHA KINGMED MEDICAL DIAGNOSTICS INST
View PDF0 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Some studies have also used QPCR method and next-generation sequencing to detect SCN1A point mutations, but there is no report on the detection of SCN1A gene copy number variation by QPCR method

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 more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Kit for detecting SCN1A gene copy number variation
  • Kit for detecting SCN1A gene copy number variation
  • Kit for detecting SCN1A gene copy number variation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0048] 1. Primer test

[0049] 1) Linear DNA preparation (Table 1): serially dilute the standard HUMAN GENETIC DNA (253NG / UL), take 1UL and add 24.3UL DDH 2 O, vortex, micro separation, the concentration is 10NG / UL.

[0050] Then 10-fold serial dilution, take 10UL and add to 90UL DDH 2 In O, it is necessary to fully vortex and mix each time before proceeding to the next gradient dilution.

[0051] Table 1

[0052]

[0053]

[0054] 2) Experimental system (Table 2)

[0055] Table 2

[0056]

[0057] 3) Amplification program (Table 3)

[0058] table 3

[0059]

[0060] 4) Analysis of results

[0061] ABI7500 settings:

[0062] EXPERIMENT PROP chooses QUANTUTATION–RELATIVE STANDARD CURVE AND SYBRGREEN REAGENTS.

[0063] The result is as follows:

[0064] Primer SCN1A-1: the amplification efficiency of the primer is 104.87%, and the peak of the melting curve is single;

[0065] Primer SCN1A-2: The amplification efficiency of the primer is 90.89%, and the pea...

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

No PUM Login to View More

Abstract

The invention discloses a kit for detecting the copy number variation of an SCN1A gene. The kit contains SCN1A. F, SCN1A. R, SCN1A. 2. F, SCN1A. 2. R, SCN1A. 3. F, SCN1A. 3. R, SCN1A. 4. F, SCN1A. 4. R, SCN1A. 6. F, SCN1A. 6. R, SCN1A. 7. F, SCN1A. 8. R, SCN1A. 9. F, SCN1A. 9. R, SCN1A. 10. F, SCN1A. 10. R, SCN1A. 1. F, SCN1A. 1. F and SCN1A. 1. F, and SCN1A. 1. F and SCN1A. 1. F.

Description

technical field [0001] The invention belongs to the technical field of biomedical detection, and in particular relates to a kit for detecting the variation of the copy number of SCN1A gene. Background technique [0002] Epilepsy is a group of syndromes of central nervous system dysfunction caused by highly synchronized abnormal discharge of brain neurons, characterized by paroxysmal, transient, repetitive and stereotyped. The increased excitability of neuronal cell membranes is easy to form epileptic discharges, which is the pathophysiological basis of epilepsy. Studies have found that more and more single gene mutations lead to epilepsy, most of these genes encode ion channels or receptors, including voltage-gated sodium, potassium, calcium, chloride ion channels and acetylcholine receptors and γ-aminobutyric acid receptors (GABA). The voltage-gated sodium channel is mainly responsible for controlling the excitability of cells, and its structure and function abnormalities...

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
no application Login to View More
IPC IPC(8): C12Q1/6883C12Q1/686C12N15/11
CPCC12Q1/6883C12Q1/686C12Q2600/156C12Q2561/113C12Q2563/107C12Q2545/114
Inventor 朱加琳陈鹏谭兵健唐春燕
Owner CHANGSHA KINGMED MEDICAL DIAGNOSTICS 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
PatSnap group products

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