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Early-warning detection kit for acute and chronic mountain sickness susceptibility genes

A detection kit, a technology for altitude sickness, applied in genomics, microbial determination/inspection, chemical library, etc., can solve the problems of scattered gene research, low throughput, high cost, avoid incidence and mortality, detect Low cost and high accuracy

Pending Publication Date: 2019-03-15
青海省人民医院
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

For example, ACE, AGT, eNOS, HIF-1α, EPAS1, VEGFA, EGLN1, HSP70, etc., but the existing gene research is relatively scattered, and the factors affecting altitude sickness are more complicated. The existing gene detection technology fluorescent PCR method, fluorescent chip method, Sanger sequencing, next-generation sequencing, etc., all have certain defects
For example, the fluorescent PCR method has the defects of low throughput and high cost, and both Sanger sequencing and next-generation sequencing have the defects of cumbersome operation and high cost

Method used

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  • Early-warning detection kit for acute and chronic mountain sickness susceptibility genes
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  • Early-warning detection kit for acute and chronic mountain sickness susceptibility genes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0039] (1) Primer design and synthesis

[0040] For the 96 gene polymorphic sites in Table 3, corresponding PCR amplification primers and specific extension primers were designed, as shown in Table 4.

[0041] Among them, in order to prevent the PCR primers from entering the detection window of the mass spectrometer and interfering with the detection effect, a certain number of bases, such as ACGTTGGATG, are added to the 5' end of each PCR primer to increase the molecular weight of each PCR primer, thereby exceeding the detection efficiency of the mass spectrometer. window.

[0042] Table 3 Genes and loci related to altitude sickness

[0043]

[0044]

[0045] Table 4 Primer sequence list

[0046]

[0047]

[0048]

[0049]

[0050] (2) Divide the SNP sites in Table 4 into 4 groups according to the hole position numbers, mix the upstream and downstream primers of each SNP site contained in each group, and obtain the corresponding 4 groups of amplification p...

Embodiment 2

[0072] Example 2: Risk assessment analysis method

[0073] (1) OR value (odds ratio), also known as odds ratio and odds ratio, mainly refers to the ratio of the exposed population to the non-exposed population in the case group divided by the ratio of the exposed population to the non-exposed population in the control group. A commonly used indicator in case-control studies. First use the OR value to evaluate the degree of association between the single nucleotide polymorphism and the disease: OR A =(n A *m a ) / (m A *n a ), wherein, a is the designated reference base, A is the base to be analyzed, n is the case group, and m is the control group; OR A The calculation table is shown in Table 8:

[0074] Table 8 Base distribution

[0075]

[0076] OR A The calculation of:

[0077] OR A =(n A / m A ) / (n a / m a )=(n A *m a ) / (m A *n a )

[0078] Explanation:

[0079] Risk type: OR A When >1, it means that the frequency of A in the case group is greater than t...

Embodiment 3

[0086] Select 24 samples, refer to the instructions of the nucleic acid extraction kit manufacturer, and extract DNA from the whole blood, saliva or other tissues of the patient (subject), the concentration and purity of the DNA meet the detection requirements; the rest follow the method of Example 1 , test the subjects, and make an overall assessment of the individual risk based on the test results at each site. The test results of 24 subjects using the kit of the present invention show that the accuracy of the kit of the present invention is 100%, and the sensitivity reaches 1ng / μl of genomic DNA.

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Abstract

The invention discloses an early-warning detection kit for acute and chronic mountain sickness susceptibility genes and belongs to the technical field of gene detection. A mountain sickness related gene detection method is established with a nucleic acid mass-spectrometric technology, the mountain sickness risk is calculated with a model through analysis of gene detection results, mountain sickness control knowledge popularization can be performed on high risk groups, and more attention is paid to mountain sickness; high risk groups are screened out through risk assessment of special crowds, and close attention is paid to the high risk groups; high risk groups suffering from mountain sickness is warned as early as possible in combination with non-genetic factors and family history data, and the occurrence rate and death rate of mountain sickness sequelae are reduced and even avoided to the greatest extent. The kit has the advantages of being simple to operate, high in accuracy, high inthroughput, low in detection cost and the like.

Description

technical field [0001] The invention relates to an early warning detection kit for susceptibility genes of acute and chronic altitude sickness, which belongs to the technical field of gene detection. Background technique [0002] Altitude reaction (High Altitude Reaction) refers to the air pressure difference caused by the body not adapting to the altitude due to changes in dry air, cold, strong ultraviolet rays, etc. after reaching a certain altitude (generally above 2700 meters above sea level). Low oxygen content, which causes a series of symptoms and changes in functional metabolism of plateau adaptation. [0003] Altitude sickness can be divided into acute and chronic according to the course of the disease. Acute High Altitude Disease (AHAD) refers to people who have lived in the plains for a long time and entered the plateau area above 3000m above sea level, or when they originally lived in the plateau area and returned to the plateau after living in the plain for a p...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11C40B40/06G16H50/20G16B20/00
CPCC12Q1/6883C40B40/06G16H50/20
Inventor 罗俊铭程时磊
Owner 青海省人民医院
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