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

Application of SNaPshot reagent for detecting polymorphism of deafness genes of 22 sites

A deafness gene and polymorphism technology, applied in the field of genetic diseases and molecular biology diagnosis, can solve the problems of non-specific amplification, base misreading, etc., and achieve the effect of preventing speech barriers and reducing the incidence of deaf-mute

Inactive Publication Date: 2017-09-22
GUANGZHOU KINGMED DIAGNOSTICS CENT
View PDF4 Cites 4 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

What is more complicated than the general PCR method is that there are many factors to be considered in the design of Snapshot detection system, especially the multiplex Snapshot detection system: primer length, Tm value, tail structure selection, and the ratio of template to primer may cause non-specific amplification and Subsequent base miscalls

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
  • Application of SNaPshot reagent for detecting polymorphism of deafness genes of 22 sites
  • Application of SNaPshot reagent for detecting polymorphism of deafness genes of 22 sites
  • Application of SNaPshot reagent for detecting polymorphism of deafness genes of 22 sites

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0071] Embodiment 1 detection process

[0072] 1. The specific implementation process of the test

[0073] 1.1 DNA extraction

[0074] Human blood samples are used to provide DNA. For details, refer to the company's "Standard Operating Procedures for Extracting Genomic DNA from Blood". Calculate the concentration of the extracted DNA and dilute it to 5-10 μg / mL.

[0075] 1.2 Reagent preparation

[0076] e) Configure twice the Master Mix, which includes dNTP, MgCl 2 , Hot-start ultra-fidelity DNA polymerase, buffer, after melting at room temperature, briefly centrifuge; prepare an appropriate number of PCR reaction tubes.

[0077] f) Prepare a primer mixture: the ratio of each primer is = 1:1, shake and mix well; centrifuge for a short time and set aside.

[0078] g) Reaction system preparation

[0079]

[0080] d) Shake and mix well, and after brief centrifugation, dispense 23 μL into labeled PCR reaction tubes. Transfer to specimen preparation area.

[0081] 1.3 Sam...

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

PropertyMeasurementUnit
Sensitivityaaaaaaaaaa
Login to View More

Abstract

The invention provides application of a SNaPshot reagent for detecting polymorphism of deafness genes of 22 sites. Polymorphism sites of detected deafness genes comprise GJB2 gene sites rs80338939, rs80338942, rs80338943, rs111033204, 176_191del16, c.35dupG and 508_511dupAACG; GJB3 genes rs74315318 and rs74315319; SLC26A4 genes rs111033220, rs201562855, rs111033305, rs192366176, rs111033318, rs121908362, rs121908363, rs200455203, rs111033380, rs111033313 and c.281C greater than T; mitochondrion DNA (Deoxyribonucleic Acid) rs267606619 and rs267606617.

Description

technical field [0001] The invention relates to the fields of molecular biology diagnosis and genetic disease. Specifically, the present invention provides a SNaPshot kit for detecting multiple deafness gene polymorphisms. Background technique [0002] Congenital deafness is one of the most common birth defects and the most common human sensory system disorder, with an incidence of 0.1%-0.3%. 60% of deafness is related to genetic factors. Among these genetic factors, GJB2, SLC26A4, GJB3 genes and mitochondrial DNA m.1555A>G and m.1494C>T sites were mainly included. In the screening of newborn deafness gene mutations in China, the GJB2 gene mutation has a high carrier rate of about 2.6%, the SLC26A4 gene mutation carrier rate is about 1.9%, and the mitochondrial DNA m.1555A>G homogeneous mutation of newborns accounts for 0.1%. , GJB3 gene mutations are only found in a small number of patients. [0003] Cx26 encoded by the GJB2 gene is expressed in the cochlea, lo...

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
Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/16C12Q2565/125C12Q2537/143
Inventor 赵薇薇胡昌明徐艳艳陈白雪贺书香刘晶星于世辉
Owner GUANGZHOU KINGMED DIAGNOSTICS CENT
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