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Selection, detection and application of catalase gene tagging single nucleotide polymorphic sites

A single nucleotide polymorphism and catalase technology, which is applied in the determination/testing of microorganisms, biochemical equipment and methods, DNA/RNA fragments, etc., can solve the problem of reducing oxygen free radical scavenging effect and noise tolerance drop, no main effects detected, etc.

Inactive Publication Date: 2014-03-19
THE THIRD AFFILIATED HOSPITAL OF THIRD MILITARY MEDICAL UNIV OF PLA
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

If CAT is mutated, it may reduce the scavenging effect of oxygen free radicals, which in turn leads to a decrease in the individual's tolerance to noise and increased susceptibility to NIHL. Therefore, it may be an important candidate gene for NIHL susceptibility
But so far, there are few studies on the correlation between CAT gene polymorphism and NIHL, mainly focusing on the promoter region -262C / T, and no meaningful main effect has been detected; while the 389C>T polymorphism is close to There have been a lot of studies in the past few years, but there are more reports at home and abroad about the correlation between it and vitiligo, systemic lupus erythematosus, etc., and there is no report on the correlation between it and NIHL, and the role of these variations in forecasting and new drug development Related reports on applications in

Method used

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  • Selection, detection and application of catalase gene tagging single nucleotide polymorphic sites
  • Selection, detection and application of catalase gene tagging single nucleotide polymorphic sites
  • Selection, detection and application of catalase gene tagging single nucleotide polymorphic sites

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0053] Example 1 Selection and detection of CAT gene signature SNP

[0054] 1. CAT gene sequence variation screening

[0055] Use NCBI (www.ncbi.nlm.nih.gov.) GenBank to determine the range of human CAT gene and its upstream and downstream extension regions. Using the latest version of HapMap (http: / / www.hapmap.org) Beijing Han SNP database (Data Rel27a / phaseⅡMar08, on NCBI B36assembly, dbSNP b126), search for the CAT gene and its upstream and downstream extensions of 10kb (ie chr11: 34460472..34493607) in the range of all SNP sites, found a total of 115 SNP sites in the CAT gene of Chinese Han people, of which 44 SNP sites are common SNP sites with an occurrence frequency of more than 10% in the population. This topic selects these 44 SNP loci as the research object.

[0056] In order to accurately select a certain representative tag SNP in a certain gene and facilitate the accurate positioning of its biological significance, according to the distribution of known common ...

Embodiment 2

[0085] Example 2 Correlation between CAT gene signature SNP and noise-induced deafness in Chongqing Han population

[0086] 1. Description of case-control samples

[0087] It consisted of 494 factory workers exposed to noise (including 303 males and 191 females, aged 26-58 years, with an average age of 34.5±5.4 years). Mainly workers from Chongqing Longzhang Paper Co., Ltd., Chuandong Shipyard’s forging workshop, air compressor workshop, electric welding workshop, water production workshop, thermal power plant, power plant, and fertilizer plant of Chongqing Jianfeng Industrial Group Co., Ltd. As the research object, because the workers in these factories have little mobility, and they all work in the same position when they enter the factory. The research subjects were adults with a history of occupational noise exposure, who had been exposed to occupational noise for at least 3 years; those with a history of otitis media and long-term ototoxic drug use were excluded; occup...

Embodiment 3

[0101] Example 3 Reagent test kit

[0102] The present invention also provides a polymorphism kit for in vitro detection of the tag single nucleotide polymorphism site of the CAT gene, the kit comprising:

[0103] 1) Amplify the primers and probe sequences of rs208679, rs10836233, rs2300182, rs769217, rs7104301 and rs7949972 (see Table 2 and Table 3 above for details of primers, probe sequences and corresponding annealing temperatures);

[0104] 2) PCR amplification enzyme and corresponding buffer;

[0105] 3) Reagents for detecting rs208679, rs10836233, rs2300182, rs769217, rs7104301 and rs7949972 sites.

[0106] Table 8 The parameters corresponding to the typing of the 6 SNP sites of the CAT gene

[0107]

[0108]

[0109] Note: A1=Allele 1; A2=Allele 2; P1=Specific Ligation Primer 1; P2=Specific Ligation Primer 2; Pc=Universal Ligation Primer; F1=the fluorescence corresponding to Specific Ligation Primer 1; F2 = Fluorescence corresponding to specific ligation pr...

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Abstract

The design of the invention relates to selection, detection and application of tagging single nucleotide polymorphic sites of a catalase (CAT) gene, and further relates to a haplotype consisting of the tagging single nucleotide polymorphic (SNP) sites of the CAT gene, a detection method of the haplotype and a kit for detecting the tagging single nucleotide polymorphic sites of the CAT gene. According to the selection, detection and application disclosed by the invention, 6 tagging SNP sites of the CAT gene related to noise-induced deafness are screened, wherein risk of an individual carrying an rs769217 site C allelic gene and suffering from the noise-induced deafness is greatly increased when noise intensity is 85-92dB, and risk of an individual carrying an rs208679 site A allelic gene and suffering from the noise-induced deafness is greatly increased when noise intensity is less than 85dB; a specific combined haplotype A-G-T-C-A-C individual carrying six tagging SNP sites, compared to other haplotype individuals, is higher in risk of suffering from the noise-induced deafness.

Description

technical field [0001] The design of the invention relates to the selection, detection and application of a catalase gene (catalase, CAT) gene tag single nucleotide polymorphism (Tag Single Nucleotide Polymorphism, tSNP) site. The present invention also relates to a haplotype composed of a CAT gene tag single nucleotide polymorphism site and a detection method and application thereof. Background technique [0002] Deafness has always been a common disease that plagues human beings, bringing a lot of troubles to society and families, and consuming a lot of manpower and material resources. The World Health Organization estimates that 250 million people worldwide suffer from moderate or greater hearing loss. In 2006, the Second National Sample Survey on Disabled People calculated that the total number of disabled people in the country was 82.96 million, of which 20.04 million were hearing disabled, accounting for the first place among all kinds of disabled people. Noise-induc...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/172
Inventor 段朝霞杨俊慧张洁元康建毅陈魁君李晓霞陈继川王建民李兵仓
Owner THE THIRD AFFILIATED HOSPITAL OF THIRD MILITARY MEDICAL UNIV OF PLA
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