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Non-syndromic autosomal dominant hereditary deafness pathogenic gene KCNQ4 mutation detection kit

A kit and gene technology, applied in the direction of recombinant DNA technology, microbial measurement/inspection, DNA/RNA fragments, etc., can solve the problems of different effects on protein functions, the difficulty of increasing the pathogenicity of mutation sites, etc., and reduce the birth rate , to avoid economic loss and reduce the burden

Inactive Publication Date: 2019-02-19
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.A857G(p.Y286C) in KCNQ4 gene has not been reported so far

Method used

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  • Non-syndromic autosomal dominant hereditary deafness pathogenic gene KCNQ4 mutation detection kit
  • Non-syndromic autosomal dominant hereditary deafness pathogenic gene KCNQ4 mutation detection kit
  • Non-syndromic autosomal dominant hereditary deafness pathogenic gene KCNQ4 mutation detection kit

Examples

Experimental program
Comparison scheme
Effect test

example 1

[0069] 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 exon6 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

[0170] PCR amplification primers (design completed in March 2018) are any pair of the following primers, and others are the same as Example 1:

[0171] Upstream primer KCNQ4-F2: 5`-TATGACCCTAACCAGCCCC-3`;

[0172]Downstream primer KCNQ4-R2: 5`-TTGGCTGCCGGCATCCTCCGCTTCT-3`;

[0173] Upstream primer KCNQ4-F3: 5`-CAGGAGAGGGAGAATCCATC-3`;

[0174] Downstream primer KCNQ4-R3: 5`-CGAAGTGCTTCTGCCGGTGCT-3`;

[0175] Upstream primer KCNQ4-F4: 5`-TATACCCCTTTCCCCTGACCAGCC-3`;

[0176] Downstream primer KCNQ4-R4: 5`-GCTCCTGGACCTTCAGGGCAAA-3`;

[0177] Upstream primer KCNQ4-F5: 5`-CCTACCTGCCTGTACCCCCA-3`;

[0178] Downstream primer KCNQ4-R5: 5`-GCCGGAGCCTAGGATGCCCTAGAGGGATA-3`;

[0179] Upstream primer KCNQ4-F6: 5`-CGTGGGTGACCAGGGGCCCC-3`;

[0180] Downstream primer KCNQ4-R6: 5`-GGGCATGGTTGGGGGAATGTGCT-3`;

[0181] Upstream primer KCNQ4-F7: 5`-ACAAGCCGTAGGTGGCCCCC-3`;

[0182] Downstream primer KCNQ4-R7: 5`-GGCAGTGGTGGGGCAGTAAGAGGCT-3`;

[0183] Upstream primer KCNQ4-F8: 5`-GTGACC...

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Abstract

The invention discloses a non-syndromic autosomal dominant hereditary deafness pathogenic gene KCNQ4 mutation detection kit. The kit comprises a reagent for extracting DNA from a sample to be detected, a PCR reaction reagent for amplifying the sample DNA, and a reagent for sequencing a PCR amplification product; the PCR reaction reagent for amplifying the sample DNA comprises a PCR primer, and theinvented kit is used for detecting whether the c. A857G mutation exists in a patient KCNQ4 gene so as to diagnose the cause of non-syndromic autosomal dominant hereditary deafness. The kit is beneficial to clinically carrying out the KCNQ4 mutation screening work of the non-syndromic autosomal dominant hereditary deafness patients, and provides basis for the diagnosis of the non-syndromic autosomal dominant hereditary deafness patients.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a typing detection kit for c.A857G (p.Y286C) 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 number of 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 the vestibular organ, KCNQ4 was limited to type I hair cells ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 查定军李琼梁鹏飞王淑娟安晓刚李薇邱建华
Owner FOURTH MILITARY MEDICAL UNIVERSITY
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