MYO15A gene mutant and application thereof

A gene and application technology, applied in the field of MYO15A gene mutants

Pending Publication Date: 2021-11-23
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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  • MYO15A gene mutant and application thereof
  • MYO15A gene mutant and application thereof
  • MYO15A gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0082] Example 1 Determination of autosomal recessive deafness-causing mutations

[0083] 1. Sample collection

[0084] 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 . 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.

[0085] The hearing results of patients in this family can be seen in figure 2 . exist figure 2 In , the abscissa indicates the hearing frequency, and the ordinate indicates the hearing level. If the hearing is normal, the threshold curve should be floating around 0. Such as figure 2 As shown, the audiogram showed that p...

Embodiment 2

[0094] Example 2 Sanger method sequencing verification

[0095] The MYO15A gene of all family members (including patients and parents with normal hearing) in the family of patients with autosomal recessive non-synthetic deafness described in Example 1 is detected: c.2802_2812delTCCCACCCAAC and c.5681T for the MYO15A gene Design primers for the >C mutation, and then obtain the relevant sequence of the mutation site by PCR amplification, product purification and sequencing. According to the determination of whether the sequence is mutant or wild type, verify the c.2802_2812delTCCCACCCAAC and c.5681T>C of the MYO15A gene Whether the mutation was detected in the sample.

[0096] Specific steps are as follows:

[0097] 1. DNA extraction

[0098] 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.

[0099] 2. Primer design and PCR reaction

[0100] First, referring to the human...

Embodiment 3

[0116] Embodiment 3 detection kit

[0117] Prepare a detection kit, which includes primers capable of detecting c.2802_2812delTCCCACCCAAC and c.5681T>C mutations of the MYO15A gene, for screening biological samples susceptible to autosomal recessive non-synthetic deafness, wherein these primers are the MYO15A gene Specific primers, the sequences of which are shown in PRIMER SEQ3 F1, PRIMER SEQ3 F2, PRIMER SEQ4 R1, and PRIMER SEQ4 R2 in Example 2.

[0118] The specific steps for screening biological samples susceptible to autosomal recessive non-synthetic deafness using the above kit are as follows:

[0119] According to the method described in step 2 of Example 1, the DNA of the test subject was extracted, and the PCR reaction was carried out with the extracted DNA as a template and the specific primers of the above-mentioned MYO15A gene (see Example 2 for the PCR reaction system and reaction conditions), and according to Conventional methods in the art purify the PCR product...

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PUM

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Abstract

The invention provides an MYO15A gene mutant and an application thereof. The invention provides a gene mutation, and compared with a wild type MYO15A gene, the gene mutation provided by the invention has a c.2802_2812delTCCCACCCAAC mutation and/or a c.5681T>C mutation. The gene mutation is detectable, and whether a biological sample suffers from non-syndromic deafness or not can be effectively detected by detecting whether the gene mutation exists in the biological sample or not. By detecting the gene mutation, the detection and research of the hereditary hearing loss disease are expanded and improved, and a new detection site and a new detection method and approach are provided for the diagnosis or treatment of the disease.

Description

technical field [0001] The invention belongs to the technical field of genetic engineering, and in particular relates to a MYO15A gene mutant and its application. 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 than 1...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/6883G01N33/68A61K49/00A61K45/00A61P27/16
CPCC07K14/47C12Q1/6883G01N33/6893A61K49/0008A61K45/00A61P27/16C12Q2600/136C12Q2600/156G01N2800/14G01N2333/47
Inventor 彭智宇孙宇向嘉乐陈森谢文李丹宋娜娜方星星
Owner BGI GENOMICS CO LTD
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