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Kit for detecting mutation of pathogenic gene KCNQ4 of non-syndromic autosomal dominant hereditary deafness

A kit and gene technology, applied in the field of KCNQ4 gene single mutation site c.C1258T typing detection kits, can solve the problems of different protein functions, increase the difficulty of pathogenicity of mutation sites, etc. The effect of avoiding economic loss and reducing the burden

Inactive Publication Date: 2019-04-02
FOURTH MILITARY MEDICAL UNIVERSITY
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, due to the variety of mutations in the KCNQ4 gene, each site has a different effect on the function of the protein, which increases the difficulty of clarifying the pathogenicity of the new mutation site
The single mutation site c.C1258T(p.R420W) in KCNQ4 gene has not been reported so far

Method used

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  • Kit for detecting mutation of pathogenic gene KCNQ4 of non-syndromic autosomal dominant hereditary deafness
  • Kit for detecting mutation of pathogenic gene KCNQ4 of non-syndromic autosomal dominant hereditary deafness
  • Kit for detecting mutation of pathogenic gene KCNQ4 of non-syndromic autosomal dominant hereditary deafness

Examples

Experimental program
Comparison scheme
Effect test

example 1

[0046] Collect all kinds of non-syndromic autosomal dominant deafness through the deaf clinic and resource collection network, and establish a resource bank. On the premise that the patient is voluntary, after signing the informed consent, 5-10mL blood samples will be collected, and an outpatient medical record database will be established to record the patient's condition, family history and contact information in detail. Then, the genomic DNA was extracted by phenol-chloroform extraction, 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 Primer3 to design primers (including the entire exon9 region of KCNQ4), and use genomic DNA as a template for PCR amplification. Direct sequencing of PCR amplification products: the sequencing primers are the same as the PCR amplification primers, forward and reverse sequencing, using ABI 3700 DNA sequencer. The sequence obtained by se...

example 2

[0147] PCR amplification primers (design completed in December 2018) are any pair of the following primers, and others are the same as Example 1:

[0148] Upstream primer KCNQ4-E9F2: 5`-CCATGGCCCTGCCTGCC-3`;

[0149] Downstream primer KCNQ4-E9R2: 5`-GACGGCCTAGGAGTCCCCCA-3`.

[0150] The Fourth Military Medical University of the Chinese People's Liberation Army

[0151] Kit for detection of KCNQ4 mutation in non-syndromic autosomal dominant deafness gene

[0152] 4

[0153] 1

[0154] 21

[0155] DNA

[0156] Synthetic

[0157] 1

[0158] actgatggtg ccctctcctg c 21

[0159] 2

[0160] 21

[0161] DNA

[0162] Synthetic

[0163] 2

[0164] aacaggccca gacacccacg a 21

[0165] 3

[0166] 17

[0167] DNA

[0168] Synthetic

[0169] 3

[0170] ccatggccct gcctgcc 17

[0171] 4

[0172] 20

[0173] DNA

[0174] Synthetic

[0175] 4

[0176] gacggcctag gagtccccca 20

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Abstract

The invention discloses a kit for detecting mutation of a pathogenic gene KCNQ4 of non-syndromic autosomal dominant hereditary deafness. The kit includes a reagent for extracting DNA from a sample tobe tested, a PCR reaction reagent for amplifying the sample DNA, and a reagent for sequencing PCR amplification products. The PCR reaction reagent for amplifying the sample DNA includes a PCR primer.The kit is used for detecting the existence of c.C1258T mutation of the KCNQ4 gene of a patient, so the reason of non-syndromic autosomal dominant hereditary deafness is diagnosed. The kit can be helpful for carrying out screening work of KCNQ4 mutation in the patient with non-syndromic autosomal dominant deafness in clinic, and provides a basis for diagnosis of the patient with non-syndromic autosomal dominant hereditary deafness.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a typing detection kit for c.C1258T (p.R420W) single mutation site of KCNQ4 gene used in the diagnosis of non-syndromic autosomal dominant hereditary deafness DFNA2. Background technique [0002] The KCNQ4 gene is a potassium channel gene reported by Kubisch et al. in 1999. Van et al. analyzed the family chromosomal linkage and eventually located the gene of DFNA2 on the chromosome 1p34 segment. Subsequently, it was found that the KCNQ4 gene, a member of the potassium ion channel family, is located on the chromosome 1p34 segment, which is the pathogenic gene of DFNA2. In the mouse cochlea, Kharkovets et al. found that KCNQ4 mRNA was distributed in a large amount in outer hair cells; through KCNQ4-specific antibody labeling, it was found that KCNQ4 protein was mainly located in the basement membrane of outer hair cells. In vestibular organs, KCNQ4 was limited to type I hair cells and...

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 查定军李琼梁鹏飞王淑娟陈俊李薇安晓刚邱建华
Owner FOURTH MILITARY MEDICAL UNIVERSITY
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