Mutation detection kit for sensorineural deafness virulence gene GJB2

A kit and gene technology, applied in the field of GJB2 gene single mutation site c.170A>C typing detection kits, can solve the problems of potassium poisoning, affecting the structure of connexins, cochlear hair cell damage, etc., to reduce the burden , the effect of reducing the birth rate

Inactive Publication Date: 2019-01-22
FOURTH MILITARY MEDICAL UNIVERSITY
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The cause of deafness may be that mutations in the coding region of the GJB2 gene lead to truncated proteins in protein translation, resulting in non-functional proteins, affecting the structure of gap junction proteins, thereby affecting the normal opening and closing of the above-mentioned channels; non-truncating mutations may also occur, not Affect the expression of protein, but it will affect the permeability of gap junction protein; the abnormality of gap junction channel can lead to the circulation of potassium ions back to the endolymph, and the concentration of potassium ions will change. Reaching a certain concentration will lead to potassium poisoning, cochlear Hair cell damage, leading to sensorineural deafness, and most people manifest as congenital deafness, and most of them manifest as severe or extremely severe sensorineural deafness
There is no report about the c.170A>C(p.Q57P) mutation of the GJB2 gene

Method used

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  • Mutation detection kit for sensorineural deafness virulence gene GJB2
  • Mutation detection kit for sensorineural deafness virulence gene GJB2
  • Mutation detection kit for sensorineural deafness virulence gene GJB2

Examples

Experimental program
Comparison scheme
Effect test

example 1

[0045] Collect all kinds of sensorineural deafness patients through the deaf clinic and resource collection network, and establish a resource library. On the premise that the patient is voluntary, after signing the informed consent, blood samples are collected, and an outpatient medical record database is established to record the patient's condition, family history and contact information in detail. Then, the genomic DNA was extracted by protease degradation, quantified and stored at -20°C. Each DNA sample corresponds to the registered patient's clinical data in detail. Then, use the online primer design software Primer5.0 to design primers (including the entire coding region of GJB2, gene ID: 2706), use genomic DNA as a template, and perform PCR amplification on a BIORAD My Cycle thermal cycler. 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 sequencer. ...

example 2

[0150] Amplification primers (design completed in March 2018) are as follows, others are the same as Example 1:

[0151] Upstream primer GJB2-F-2: 5'-GAGAAGTCTCCCCTGTTCTGTCCT-3',

[0152] Downstream primer GJB2-R-2: 5'-ATTGTGGCATCTGGAGTTTCA-3'.

[0153] The Fourth Military Medical University of the Chinese People's Liberation Army

[0154] Sensorineural deafness gene GJB2 mutation detection kit

[0155] 4

[0156] 1

[0157] 22

[0158] DNA

[0159] Synthetic

[0160] 1

[0161] catcttatcc tcacggttct cc 22

[0162] 2

[0163] 22

[0164] DNA

[0165] Synthetic

[0166] 2

[0167] aagaagatgc tgcttgtgta gg 22

[0168] 3

[0169] 23

[0170] DNA

[0171] Synthetic

[0172] 3

[0173] gagaagtctc cctgttctgt cct 23

[0174] 4

[0175] 21

[0176] DNA

[0177] Synthetic

[0178] 4

[0179] attgtggcat ctggagtttc a 21

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Abstract

The invention discloses a mutation detection kit for a sensorineural deafness virulence gene GJB2. The kit includes a reagent for extracting DNA from a sample to be tested, a PCR reaction reagent foramplifying the sample DNA, and a reagent for sequencing a PCR amplification product, wherein the PCR reaction reagent for amplifying the sample DNA includes a PCR primer. The kit of the present invention is used to detect whether a patient has GJB2 gene c.170A>C mutation, so that the cause of sensorineural deafness is diagnosed. The kit facilitates clinical screening of GJB2 mutation of patients with sensorineural deafness, and provides a basis for diagnosis of patients with sensorineural deafness.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a detection kit for typing a single mutation site c.170A>C (p.Q57P) of GJB2 gene used in clinical diagnosis of sensorineural deafness. Background technique [0002] The GJB2 gene is the most common deafness gene. Cx26 encoded by the GJB2 gene belongs to the connexin gene family, which was cloned in 1993 and located at 13q11-12. In 1997, some scholars found that GJB2 gene mutations are closely related to hereditary non-syndromic deafness. Cx26 encoded by the GJB2 gene forms a complete gap junction channel with the gap junction protein of adjacent cells, which plays an important role in signal transduction and material exchange, and is also an important channel for intercellular conversion of electrolytes, second messengers and metabolites , cochlear hair cells and potassium ion circulation in cochlear endolymph are regulated by the aforementioned gap junction channels. Potassium...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 查定军王淑娟梁鹏飞王剑李薇安晓刚李琼邱建华
Owner FOURTH MILITARY MEDICAL UNIVERSITY
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