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PTPRQ gene mutant and application thereof

A mutant, autosomal recessive technology, applied in the field of PTPRQ gene mutants, can solve the problems of unknown etiology and need to be further developed, and achieve the effect of high early diagnosis rate

Active Publication Date: 2016-08-10
GENERAL HOSPITAL OF PLA +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] At present, there are still but still many patients with autosomal recessive non-synthetic deafness whose etiology is unknown. Therefore, research on autosomal recessive non-synthetic deafness, especially its causative genes, remains to be done in depth

Method used

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  • PTPRQ gene mutant and application thereof
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  • PTPRQ gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0066] Example 1 Determining the causative mutation of autosomal recessive non-syndromic deafness

[0067] 1. Sample collection

[0068] The inventor collected a 2-generation family of autosomal recessive non-synthetic deafness patients of the Han nationality in China. The pedigree is shown in figure 2 . Such as figure 2 As shown, the family contains 4 members, including 2 patients (i.e. II1 and II2 in the pedigree diagram), and 2 normal persons in the family (i.e. the parents I1 and I2 of the 2 patients, neither of whom has the disease), which meets the Autosomal recessive mode of inheritance. Among them, ○ indicates a normal female, □ indicates a normal male, ■ indicates a male patient, and the arrow points to the proband.

[0069] Among them, the pure tone audiometry results of two patients in this family are shown in image 3 . exist image 3 In , the abscissa indicates the frequency of the pure tone, and the ordinate indicates the hearing level. If the hearing th...

Embodiment 2

[0084] Example 2 Sanger method sequencing verification

[0085] The PTPRQ gene of all family members (comprising 2 patients and 2 normal family members) in the autosomal recessive non-synthetic deafness patient family described in embodiment 1 and 328 randomly selected normal people outside the family respectively Detection: design primers for the c.3125A>G and c.5981A>G mutations of the PTPRQ gene, and then obtain the relevant sequence of the mutation site by PCR amplification, product purification and sequencing, and determine whether the result of the sequence determination belongs to the mutant type or Wild type, to verify the correlation between the c.3125A>G and c.5981A>G mutations of the PTPRQ gene and autosomal recessive non-syndromic deafness.

[0086] The specific method steps are as follows:

[0087] 1. DNA extraction

[0088] According to the method for extracting DNA described in Example 1, the genomic DNA in the peripheral venous blood of the subject was extrac...

Embodiment 3

[0102] Example 3 Detection Kit

[0103] Prepare a detection kit, which comprises primers capable of detecting the c.3125A>G and c.5981A>G mutations of the PTPRQ gene, for screening biological samples susceptible to autosomal recessive non-synthetic deafness, wherein these primers are PTPRQ Gene exon-specific primers, the sequences of which are shown in SEQ ID NO: 3-6 in Example 2.

[0104] The specific steps for using the above kit to screen biological samples susceptible to autosomal recessive non-synthetic deafness are: extract the DNA of the test subject according to the method described in step 2 of Example 1, and use the extracted DNA as a template to combine with the above PTPRQ The exon-specific primers of the gene were subjected to PCR reaction (see Example 2 for the PCR reaction system and reaction conditions), and the PCR product was purified according to conventional methods in the art, and the purified product was sequenced, and then the sequence obtained by observ...

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Abstract

The invention discloses a PTPRQ gene mutant and an application thereof, and specifically relates to an isolated PTPRQ-mutant-coding nucleic acid, an isolated polypeptide, and a method, system, and kit for screening a biological sample susceptible to non-syndromic autosomal-recessive hearing loss. Compared with SEQ ID NO:1, the isolated PTPRQ-mutant-coding nucleic acid has c.3125A>G mutation or c.5981A>G mutation. Whether a new mutant exists in the biological sample is detected, and the fact that if the biological sample is susceptible to non-syndromic autosomal-recessive hearing loss can be effectively detected.

Description

technical field [0001] The present invention relates to PTPRQ gene mutant and application thereof. Specifically, the present invention relates to isolating nucleic acids encoding PTPRQ mutants, isolated polypeptides, systems for screening biological samples susceptible to autosomal recessive non-synthetic deafness, and biological samples for screening susceptibility to autosomal recessive non-synthetic deafness. Kits for samples, constructs, recombinant cells, and methods for constructing drug screening models. Background technique [0002] Deafness (hearing loss; deafness) is a general term for a class of auditory dysfunction diseases. Worldwide, deafness is a common and frequently-occurring disease. The disease can be caused by sound transmission or sensory sound dysfunction of the auditory system, or it may be caused by lesions in the auditory nerve or central centers at all levels in the auditory conduction pathway. The etiology is extremely complex and diverse, such ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12M1/34C12Q1/68C12N5/10
Inventor 高雪戴朴张建国谌于蓝管李萍徐讯
Owner GENERAL HOSPITAL OF PLA
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