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Biomarker for predicting susceptibility risk of noise-induced hearing loss and application thereof

A biomarker and hearing loss technology, applied in the field of biomarkers, can solve the problem that no research has clearly identified NIHL susceptibility-related gene loci

Active Publication Date: 2021-12-03
SHANGHAI NINTH PEOPLES HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Clifford et al. (Clifford R E, Hoffer M, RogersR. The genomic basis of noise-induced hearing loss: Aliterature review organized by cellular pathways. Otol Neurotol, 2016, 37(8):e309) analyzed the genetics of 77 NIHL genes in the past 15 years The research carried out the analysis and summary of the signaling pathway network. Unfortunately, so far no research has clearly identified the genetic loci related to the susceptibility to NIHL in the population.

Method used

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  • Biomarker for predicting susceptibility risk of noise-induced hearing loss and application thereof
  • Biomarker for predicting susceptibility risk of noise-induced hearing loss and application thereof
  • Biomarker for predicting susceptibility risk of noise-induced hearing loss and application thereof

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Effect test

Embodiment 1

[0050] A method of predicting the risk of susceptibility to noise-induced hearing loss comprising the steps of:

[0051] (1) Extract DNA from the subject's whole blood sample;

[0052] (2) PCR instrument was used to amplify the rs1396793 polymorphic site in the 5'UTR region of gene AAK1, wherein the primer sequence was: 5'-GAATAGGGAGCAGCAAAGC-3'(forward), 5'-GAGCCGTCTCAAGTGGGT-3'(reverse) ;Reaction conditions: 98°C for 2min; 30cycles: 98°C for 10s, 58°C for 15s, 72°C for 30s; 72°C for 2min.

[0053] (3) sequencing the amplification primers;

[0054] (4) Analyze the genotype of the rs1396793 polymorphic site in the sequencing results. If it is AA, it indicates a homozygous mutation, and it is judged that the subject is a noise-induced hearing loss tolerant population; if the genotype is wild homozygous CC or heterozygous CA, it is judged that the subjects are susceptible to noise-induced hearing loss.

Embodiment 2

[0056] A kit for predicting the risk of susceptibility to noise-induced hearing loss, characterized by comprising: primers for amplifying the rs1396793 polymorphic site in the 5'UTR region of gene AAK1, wherein the primer sequence is: 5'- GAATAGGGAGCAGCAAAGC-3' (forward), 5'-GAGCCGTCTCAAGTGGGT-3' (reverse). The kit also contains other commonly used reagents for PCR amplification, such as dNTPs, polymerase, buffer, etc.

[0057] In summary, the biomarker rs1396793 provided by the present invention can be used to predict the risk of susceptibility to noise-induced hearing loss.

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Abstract

The invention discloses a biomarker for predicting the susceptibility risk of noise-induced hearing loss and application thereof. The biomarker is an SNP (Single Nucleotide Polymorphism) site rs1396793 in a 5' UTR region of an AAK1 (Adenosine Adenosine Kinase 1) gene. By detecting the rs1396793 genotype in the 5' UTR region of the AAK1 gene of the testee, whether the testee is a susceptible individual with noise-induced hearing loss or not is judged. According to the present invention, the rs1396793 in the 5' UTR region of the AAK1 gene is the NIHL tolerance mutation, and the rs1396793 mutant type-carrying homozygous individual has significant tolerance to noise, and the SNP mutation can be used for early screening of NIHL susceptible high risk groups, providing employment selection and noise protection guidance, helping clarification of the NIHL pathogenic mechanism, developing of the new targeting intervention treatment drug, and providing the new strategy for NIHL prevention and treatment.

Description

technical field [0001] The present invention relates to the technical field of biomarkers, in particular to single nucleotide polymorphism (SNP) markers and applications thereof, more specifically, to biomarkers and applications for predicting the risk of susceptibility to noise-induced hearing loss. Background technique [0002] Noise induced hearing loss (NIHL) is one of the most common sensorineural deafness, and it is also the number one occupational disease in the world. The prevalence of NIHL in the American population aged 20-69 is 15% (Shargorodsky J, Curhan S G, Curhan G C, Eavey R. Change in prevalence of hearing loss in us adolescents. JAMA, 2010, 304(7): 772 ). As exposure to traffic noise and entertainment noise becomes more and more common in daily life, the incidence of NIHL is on the rise and tends to be younger, which has become a global problem that needs to be solved urgently. [0003] NIHL is not easy to recognize in the early stage, and there is still ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/172C12Q2600/136Y02A50/30
Inventor 吴皓黄治物汪琪璇汪雪玲
Owner SHANGHAI NINTH PEOPLES HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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