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KCNQ1 gene mutant and use thereof

A gene and application technology, applied in the field of kits, constructs and recombinant cells for the detection of syndromic deafness, to achieve the effect of high early diagnosis rate

Pending Publication Date: 2021-03-05
BGI GENOMICS CO LTD +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, due to the strong genetic heterogeneity of hereditary deafness, there are still a large number of pathogenic genes that have not been identified, so there is still a lot of room for research in this area, and research on gene identification still needs to be strengthened

Method used

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  • KCNQ1 gene mutant and use thereof
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  • KCNQ1 gene mutant and use thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0079] Example 1 Determination of autosomal recessive deafness-causing mutations

[0080] 1. Sample collection

[0081] The inventor collected a Trio family (parents + proband) of a Chinese Han patient with autosomal recessive deafness, the family diagram is shown in figure 1 . Among them, ○ indicates a normal female, □ indicates a normal male, ■ indicates a male patient, and the arrow points to the proband.

[0082] Such as figure 1 As shown, the family contains 3 members, both parents are normal (i.e. I-1, I-2 in the pedigree diagram), and the son is a deaf patient (i.e. II-1 in the pedigree diagram), conforming to autosomal recessive genetic pattern.

[0083] The pure tone audiometry results of the patients in this family can be seen in figure 2 . exist image 3 In the figure, the abscissa indicates the frequency of the pure tone, and the ordinate indicates the hearing level. If the hearing is normal, the threshold curve should float around 0, and the downward curve...

Embodiment 2

[0091] Example 2 Sanger method sequencing verification

[0092] Detect the KCNQ1 gene of all family members (including patients and parents with normal hearing) in the autosomal recessive deafness patient family described in Example 1: c.1741A>T mutation and c.477+ for the KCNQ1 gene Design primers for the 5G>A mutation, then obtain the relevant sequence of the mutation site by PCR amplification, product purification and sequencing, and verify whether the c.1741A>T mutation and the c. Whether the .477+5G>A mutation was detected in the sample.

[0093] Specific steps are as follows:

[0094] 1. DNA extraction

[0095] According to the DNA extraction method described in Example 1, the genomic DNA in the peripheral venous blood of the subject was extracted for future use.

[0096] 2. Primer design and PCR reaction

[0097] First, referring to the human genome reference sequence GRCh37 / hg19, specific primers for the c.1741A>T mutation and c.477+5G>A mutation of the KCNQ1 gene ...

Embodiment 3

[0114] Embodiment 3 detection kit

[0115] A detection kit is prepared, which comprises primers capable of detecting the c.1741A>T mutation of the KCNQ1 gene, and is used for screening biological samples susceptible to autosomal recessive deafness. The corresponding primers are KCNQ1 gene exon-specific primers, the sequences of which are shown in Example 2 as SEQ ID NO: 2 and SEQ ID NO: 3, etc.

[0116] The specific steps for screening biological samples susceptible to autosomal recessive deafness using the above kit are as follows:

[0117] According to the method described in step 2 of Example 1, the DNA of the test subject is extracted, and the DNA extracted is used as a template to carry out a PCR reaction with the exon-specific primers of the above-mentioned KCNQ1 gene (see Example 2 for the PCR reaction system and reaction conditions, The PCR product was purified according to conventional methods in the art, and the purified product was sequenced.

[0118] By observing...

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Abstract

The invention provides a syndrome type deafness-related gene mutation, a nucleic acid and use thereof, and particularly provides a KCNQ1 gene mutant and use thereof. Compared with a wild type KCNQ1 gene, the provided gene mutation has a c.1741A>T mutation. The provided gene mutation is a new related pathogenic mutation of syndrome type deafness. By detecting whether the gene mutation exists in a biological sample or not, whether the biological sample suffers from the syndrome type deafness or not can be effectively detected. The discovery of the pathogenic mutation site further expands and perfects detection and research of hereditary hearing loss, and provides a new detection stable site, a new detection method and way for diagnosing or treating the disease.

Description

technical field [0001] The present invention relates to the field of biology, in particular to KCNQ1 gene mutants and applications thereof. More specifically, the present invention relates to gene mutations, nucleic acids, polypeptides, biological models, drugs for syndromic deafness, and methods for detecting syndromic deafness. Kits, constructs and recombinant cells. Background technique [0002] Deafness (hearing loss, HL) is the most common sensory dysfunction disease, and a considerable number of deafness patients are related to genetic factors. Determining the molecular mechanism of deafness through genetic testing, and then taking further prenatal genetic diagnosis and intervention measures, is an effective means to reduce the incidence of deafness, and it is also one of the fundamental ways to prevent and treat deafness. According to whether there are other concurrent clinical phenotypes, hereditary deafness can be divided into syndromic hearing loss (SHL) and non-s...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/6883G01N33/68A61K45/00A61P27/16
CPCC12Q1/6883G01N33/6893A61K45/00A61P27/16C12Q2600/156C12Q2600/136G01N2333/47G01N2800/14
Inventor 彭智宇孙宇向嘉乐陈森谢文李丹许振朋
Owner BGI GENOMICS CO LTD
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