Kit for LVA (Large Vestibular Agueduct)/Pendred syndrome virulence gene SLC26a4 mutation detection

A kit and gene technology, applied in the field of c.85G>A typing detection kits for a single mutation site of the SLC26A4 gene, can solve problems such as lack, and achieve the effect of reducing the burden and reducing the birth rate

Pending Publication Date: 2019-04-26
FOURTH MILITARY MEDICAL UNIVERSITY
View PDF4 Cites 2 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] Due to the variety of SLC26A4 gene mutations, and the obvious diversity among different races, the dominant alleles of different regions and races are different, so it is particularly important to find the unique mutation sites of different regions and races, but At present, there is still a lack of such reports on the SLC26A4 gene mutation site for specific races

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 LVA (Large Vestibular Agueduct)/Pendred syndrome virulence gene SLC26a4 mutation detection
  • Kit for LVA (Large Vestibular Agueduct)/Pendred syndrome virulence gene SLC26a4 mutation detection
  • Kit for LVA (Large Vestibular Agueduct)/Pendred syndrome virulence gene SLC26a4 mutation detection

Examples

Experimental program
Comparison scheme
Effect test

example 1

[0046] Collect various sensorineural deafness patients through deaf clinics, and establish a deafness sample resource bank. On the premise of the patient's voluntary consent, after signing the informed consent, 3-5mL blood samples were collected, and an outpatient medical record database was established to record the patient's condition, family history and contact information in detail. Then, use the kit to extract the genomic DNA, put it into the warehouse after quantification, and store it at -20°C. Each DNA sample corresponds to the registered patient's clinical data in detail. Then, the online primer design software Primer3 was used to design primers (including the entire coding region of SLC26A4 and the flanking exon sequence), and the target fragment was amplified by PCR using genomic DNA as a template. Direct sequencing of PCR amplification products: the sequencing primers are the same as the PCR amplification primers, forward and reverse sequencing, using ABI 3730 DNA ...

example 2

[0153] Amplification primers (design completed in January 2018) are as follows, others are the same as Example 1:

[0154] SLC26A4-F2:5'-TTCTGTTCCTCGCTCTTCCC-3';

[0155] SLC26A4-R2: 5'-AGGTAAGTTCATTTCGGGCC-3'.

[0156] The Fourth Military Medical University of the Chinese People's Liberation Army

[0157] Reagent Kit for Detection of SLC26A4 Mutation in the Enlarged Vestibular Aqueduct / Pendred Syndrome

[0158] 4

[0159] 1

[0160] 22

[0161] DNA

[0162] Synthetic

[0163] 1

[0164] ctccgatcgt cctcgcttac cg 22

[0165] 2

[0166] 22

[0167] DNA

[0168] Synthetic

[0169] 2

[0170] cgagactgat ggagccaccc tc 22

[0171] 3

[0172] 20

[0173] DNA

[0174] Synthetic

[0175] 3

[0176] ttctgttcct cgctcttccc 20

[0177] 4

[0178] 20

[0179] DNA

[0180] Synthetic

[0181] 4

[0182] aggtaagttc atttcgggcc 20

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 LVA (Large Vestibular Agueduct) / Pendred syndrome virulence gene SLC26a4 mutation detection. The kit is prepared from a reagent which is used for extracting DNA (Deoxyribonucleic Acid) from a to-be-detected sample, a PCR (Polymerase Chain Reaction) reagent which is used for amplifying the DNA of a sample and a reagent for sequencing a PCR amplification product, wherein the PCR reagent for amplifying the DNA of the sample comprises a PCR primer. The kit disclosed by the invention is used for detecting whether SLC26A4 gene c.85G>A exists in a patient or not, so that the reason causing the LVA / Pendred syndrome can be diagnosed; the kit will be beneficial for clinically developing SLV26A4 mutation detection work on the patient suffering from the LVA / Pendred syndrome, and basis is provided for diagnosis on the patient suffering from the LVA / Pendred syndrome.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a typing detection kit for a single mutation site c.85G>A (p.Glu29Lys) of the SLC26A4 gene used in the clinical diagnosis of vestibular aqueduct enlargement / Pendred syndrome. Background technique [0002] In 1997, Everett first reported that the causative gene of Pendred syndrome was SLC26A4 gene. Pendred syndrome manifests as congenital sensorineural deafness, cochlear malformation (dilated vestibular aqueduct or Mondini malformation) combined with goiter, and its inheritance mode is autosomal recessive. In 1999, Usami conducted full sequence screening of the SLC26A4 gene in 6 families with simple vestibular aqueduct enlargement (no goiter, no Mondini malformation), and found that 4 patients were homozygous or compound heterozygous mutations of the SLC26A4 gene, and believed that the SLC26A4 gene was the same Can result in simple enlargement of the vestibular aqueduct. In 2001...

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): C12Q1/6883C12Q1/6858
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2531/113
Inventor 查定军安晓刚梁鹏飞李琼王淑娟李薇陈俊邱建华
Owner FOURTH MILITARY MEDICAL UNIVERSITY
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Try Eureka
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap