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MYO15A gene mutant and application thereof

A gene and purpose technology, applied in the biological field, to achieve the effect of high early diagnosis rate

Pending Publication Date: 2021-03-19
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

[0087] Example 1 Determination of autosomal recessive deafness-causing mutations

[0088] 1. Sample collection

[0089] 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 . Among them, the solid icon is the patient, the semi-solid icon is the carrier, and the arrow points to the proband.

[0090] Such as figure 1 As shown, the family contains 3 members, the son is a deaf patient (ie, II-1 in the pedigree chart), and the parents are normal (ie, I-1, I-2 in the pedigree chart), conforming to autosomal recessive inheritance model. The results of electrophysiological testing, auditory steady-state response (ASSR) of the patients in this family are shown in figure 2 . 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 aro...

Embodiment 2

[0099] Example 2 Sanger method sequencing verification

[0100] 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 was detected: c.8791delT and c.10419_10423delCAGCT for the MYO15A gene Design primers for mutation, and then obtain the relevant sequence of the mutation site by PCR amplification, product purification and sequencing, and verify whether the c.8791delT and c.10419_10423delCAGCT mutations of the MYO15A gene are in the sample checked out.

[0101] Specific steps are as follows:

[0102] 1. DNA extraction

[0103] 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.

[0104] 2. Primer design and PCR reaction

[0105] First, referring to the human genome reference sequence GRCh37 / hg19, specific primers were designed for the c.1041...

Embodiment 3

[0123] Embodiment 3 detection kit

[0124] Prepare a detection kit, which includes primers capable of detecting the c.8791delT and c.10419_10423delCAGCT mutations of the MYO15A gene, for screening biological samples susceptible to autosomal recessive non-synthetic deafness, wherein these primers are MYO15A gene-specific primers , its sequence is shown in SEQ ID NO:3-4 and SEQ ID NO:5-6 in embodiment 2.

[0125] The specific steps for screening biological samples susceptible to autosomal recessive non-synthetic deafness using the above kit are as follows:

[0126] 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, sequence the purified product, and then obs...

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Abstract

The invention provides a non-syndromic hearing loss related gene mutant and application thereof, and particularly provides an MYO15A gene mutant and application thereof. Compared with a wild type MYO15A gene, the gene mutant has the c.10419-10423 del CAGCT mutation and / or the c.8791 del T mutation. The gene mutant is detectable, and by detecting whether the gene mutant is present in a biological sample or not, whether a biological sample suffers from non-syndromic hearing loss or not can be effectively detected. Detection and research of the hereditary hearing loss disease are expanded and perfected through discovery of the gene mutant, and a new detection site and a new detection method and way are provided for diagnosis or treatment of the disease.

Description

technical field [0001] The present invention relates to the field of biology, in particular to MYO15A gene mutants and applications thereof, more specifically, to gene mutations, nucleic acids, polypeptides, biological models, drugs for treating non-syndromic deafness, and drugs for detecting non-syndromic deafness. Kits, constructs and recombinant cells for deafness. 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-sy...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/6883G01N33/68C12N15/85C12N5/10A61K45/00A61K48/00A61P27/16
CPCC07K14/47C12Q1/6883G01N33/6893G01N33/6848C12N15/85A61K45/00A61K48/00A61P27/16C12Q2600/156G01N2800/14
Inventor 向嘉乐孙宇彭智宇陈森谢文李丹张红云
Owner BGI GENOMICS CO LTD
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