Photosensitive nerve deafness virulence gene GJB2 mutation detection kit

A kit and gene technology, applied in the field of c.2T>G typing detection kit for a single mutation site of GJB2 gene, can solve problems affecting the structure of gap junction protein, potassium poisoning, cochlear hair cell damage, etc., and achieve amplification High efficiency, reduced burden, and the effect of reducing the birth rate

A kit and gene technology, applied in the field of c.2T>G typing detection kit for a single mutation site of GJB2 gene, can solve problems affecting the structure of gap junction protein, potassium poisoning, cochlear hair cell damage, etc., and achieve amplification High efficiency, reduced burden, and the effect of reducing the birth rate

CN109825577APending Publication Date: 2019-05-31FOURTH MILITARY MEDICAL UNIVERSITY
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  • Photosensitive nerve deafness virulence gene GJB2 mutation detection kit
  • Photosensitive nerve deafness virulence gene GJB2 mutation detection kit
  • Photosensitive nerve deafness virulence gene GJB2 mutation detection kit

Examples

Experimental program
Comparison scheme
Effect test

example 1

[0046] 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 (the amplification target region is the GJB2CDS region, the reference sequence gene ID: 2706, and the amplification target fragment size is 976bp), using genomic DNA as a template, on the BIORAD My Cycle thermal cycler Perform PCR amplification. Direct sequencing of PCR amplification products: the sequencing primers are the same as the PC...

example 2

[0151] Amplification primers (design completed in March 2018) are as follows, others are the same as Example 1 (amplification target region is GJB2 CDS region 1-212bp, reference sequence gene ID: 2706):

[0152] Upstream primer GJB2-F-2: 5'-GACATCTTATCCTCACGGTTCT-3',

[0153] Downstream primer GJB2-R-2: 5'-CAACGAGGATCATAATGCGAA-3'.

[0154] The Fourth Military Medical University of the Chinese People's Liberation Army

[0155] A detection kit for sensorineural deafness gene GJB2 mutation

[0156] 4

[0157] 1

[0158] 24

[0159] DNA

[0160] Synthetic

[0161] 1

[0162] atgacaaact aagttggttc tgtc 24

[0163] 2

[0164] 21

[0165] DNA

[0166] Synthetic

[0167] 2

[0168] aatctttgtg ttgggaaatg c 21

[0169] 3

[0170] 22

[0171] DNA

[0172] Synthetic

[0173] 3

[0174] gacatcttat cctcacggtt ct 22

[0175] 4

[0176] 21

[0177] DNA

[0178] Synthetic

[0179] 4

[0180] caacgaggat cataatgcga a 21

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Abstract

The invention provides a photosensitive nerve deafness virulence gene GJB2 mutation detection kit. The kit comprises a reagent for extracting DNA from a sample to be detected, a PCR reaction reagent for amplifying a sample DNA, and a reagent for performing sequencing on a PCR amplification product; the PCR reaction reagent for amplifying the sample DNA comprises a PCR primer. The kit is used for detecting whether a patient has GJB2 gene c.2T>G mutation or not, and therefore the reason for the photosensitive nerve deafness is diagnosed. The kit facilitates GJB2 mutation screening work for the patient with the photosensitive nerve deafness, and the basis is provided for diagnosing the patient with the photosensitive nerve deafness.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a c.2T>G (p.M1R) typing detection kit for a single mutation site 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 io...

Claims

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Application Information

Patent Timeline
31 May 2019
Publication
CN109825577A
IPC
C12Q1/6883
Inventors
查定军; 王淑娟