SLC26A4 gene mutant and application thereof

A gene and application technology, applied in the fields of application, genetic engineering, plant genetic improvement, etc.

Pending Publication Date: 2021-09-17
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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  • SLC26A4 gene mutant and application thereof
  • SLC26A4 gene mutant and application thereof
  • SLC26A4 gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0083] Example 1 Determination of autosomal recessive deafness-causing mutations

[0084] 1. Sample collection

[0085] The inventor collected a Trio family (parents + proband) of Chinese Han patients with autosomal recessive non-syndromic deafness, the family diagram is shown in figure 1 .

[0086] Such as figure 1 As shown, the family contains 3 members, the daughter is a deaf patient (ie, II-1 in the pedigree chart), and the parents are normal people (ie, I-1, I-2 in the pedigree chart), conforming to autosomal recessive inheritance model. Among them, the solid icon is the patient, the semi-solid icon is the carrier, and the arrow points to the proband.

[0087] The pure tone audiometry results of the patients in this family can be seen in figure 2 shown. exist figure 2 In , the abscissa represents the frequency of the pure tone, and the ordinate represents the hearing level. If the hearing is normal, the threshold curve should be floating around 0. Such as figu...

Embodiment 2

[0096] Example 2 Sanger method sequencing verification

[0097] The SLC26A4 gene of all family members (comprising patients and parents with normal hearing) in the family of patients with autosomal recessive non-synthetic deafness provided in Example 1 is detected respectively:

[0098] Design primers for the c.1001+5G>C and c.128delG mutations of the SLC26A4 gene, then obtain the relevant sequence of the mutation site through PCR amplification, product purification and sequencing, and determine whether it is a mutant or wild type to verify the SLC26A4 gene Whether the c.1001+5G>C and c.128delG mutations are detected in the sample.

[0099] Specific steps are as follows:

[0100] 1. DNA extraction

[0101] 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.

[0102] 2. Primer design and PCR reaction

[0103] First, referring to the human genome reference sequence GRCh37 / hg1...

Embodiment 3

[0121] Embodiment 3 detection kit

[0122] Prepare a detection kit, which includes primers capable of detecting the c.1001+5G>C and c.128delG mutations of the SLC26A4 gene, for screening biological samples susceptible to autosomal recessive non-synthetic deafness, wherein these primers are The sequences of the SLC26A4 gene-specific primers are shown in SEQ ID NO: 3-4 and SEQ ID NO: 5-6 in Example 2.

[0123] The specific steps for screening biological samples susceptible to autosomal recessive non-synthetic deafness using the above kit are as follows:

[0124] According to the method described in step 2 of Example 1, the DNA of the test subject is extracted, and the DNA of the extracted DNA is used as a template to carry out a PCR reaction with the specific primers of the above-mentioned SLC26A4 gene (see Example 2 for the PCR reaction system and reaction conditions), and according to Conventional methods in the art purify the PCR product, sequence the purified product, and t...

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PUM

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Abstract

The invention provides an SLC26A4 gene mutant and application thereof. The invention provides a gene mutation. Compared with a wild type SLC26A4 gene, the gene mutation has c.128delG mutation and / or (formula sees the description) mutation. The gene mutation is detectable, and whether a biological sample suffers from non-syndrome deafness can be effectively detected by detecting whether the gene mutation exists in the biological sample. By detecting the gene mutation, detection and research of hereditary hearing loss diseases are expanded and perfected, and a new detection site and a new detection method and way are provided for diagnosis or treatment of the diseases.

Description

technical field [0001] The invention belongs to the technical field of genetic engineering, and in particular relates to a SLC26A4 gene mutant and application thereof. 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-syndromic hearing loss (NSHL). [0003] Non-syndromic deafness accounts for about 70% of congenital hereditary deafness, of which 75%-80% are autosomal recessive (autosomal recessive, AR). To date, more t...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/6883C12N5/10C12N15/85C12Q1/02A01K67/027G01N33/68A61K45/00A61P27/16
CPCC07K14/47C12Q1/6883C12N15/85A01K67/0275G01N33/68A61K45/00A61P27/16C12Q2600/106C12Q2600/156G01N2800/14A01K2267/0306
Inventor 向嘉乐孙宇彭智宇陈森谢文李丹宋娜娜罗红玉方星星
Owner BGI GENOMICS CO LTD
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