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Application of mitochondrion DNA single nucleotide polymorphism related to generation of high altitude pulmonary edema

A high-altitude pulmonary edema and polymorphism technology, applied in the direction of recombinant DNA technology, DNA / RNA fragments, microbial determination / inspection, etc., can solve problems such as mutations and diseases

Active Publication Date: 2020-09-18
中国人民解放军总医院第七医学中心
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Because mtDNA has no introns, and mtDNA is maternally inherited, there is no histone binding to protect its coding process, so it is very easy to mutate, which will affect the genetic information carried by some important segments in the genome, and eventually lead to disease. occur

Method used

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  • Application of mitochondrion DNA single nucleotide polymorphism related to generation of high altitude pulmonary edema
  • Application of mitochondrion DNA single nucleotide polymorphism related to generation of high altitude pulmonary edema

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0029] Example 1. Establishment of a method for detecting the genotype of the rs2853817 site of mitochondrial DNA

[0030]rs2853817 is a SNP site on human mitochondrial DNA, and the variation is transition (T / C, A / G on its complementary strand). rs2853817 is located at MT: 16172 (GRCh38), HGVS: NC_012920.1:m.16172T>C, located within the MT-D-loop gene (NCBI Reference Sequence: NC_012920.1, 31-OCT-2014). The rs2853817 genotype is T or C. Among them, T is the genotype whose rs2853817 locus is T, and C is the genotype whose rs2853817 locus is C.

[0031] 1. Genomic DNA extraction

[0032] Extract the genomic DNA of the sample to be tested and use it as a template for genotype detection.

[0033] 2. Design and synthesis of primers

[0034] The PCR amplification primers and single-base extension primers of rs2853817 were designed using Sequenom's Genotyping Tools and MassARRAY Assay Design software, and were synthesized by a biological company. The sequence of the PCR amplific...

Embodiment 2

[0069] Example 2. Analysis of Mitochondrial DNA Polymorphic Site rs2853817 and Susceptibility to High Altitude Pulmonary Edema In this example, the method established in Example 1 was used to analyze the mitochondrial DNA polymorphic site rs2853817 genotype of the participants.

[0070] ethics statement

[0071] Each participant signed an informed consent form, and this study was approved by the Medical Ethics Committee of the PLA Seventh Medical Center and the Tibet PLA General Hospital.

[0072] research object

[0073] The subjects of the study were two groups obtained from the Tibet PLA General Hospital from September 2018 to September 2019 by the Seventh Medical Center of the People's Liberation Army. Group 1 consisted of 49 patients with high altitude pulmonary edema (case group) and 58 normal people (control group). Composition; Group 2 (validation sample) consists of peripheral blood samples from 33 patients with high altitude pulmonary edema (case group) and 19 norma...

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Abstract

The invention discloses application of mitochondrion DNA single nucleotide polymorphism related to generation of high altitude pulmonary edema. One technical scheme protected by the invention is application of a substance for detecting polymorphism or genotype (namely an allelic gene) of rs2853817 in human genome mitochondria DNA in preparation of a product for detecting single nucleotide polymorphism related to high altitude pulmonary edema; and a product for screening a patient with high altitude pulmonary edema can be prepared by combining the substance for detecting the polymorphism or genotype (namely the allelic gene) of rs2853817 and other substances (such as a substance for detecting the polymorphism or genotype (namely the allelic gene) of single nucleotide polymorphism related tohigh altitude pulmonary edema).

Description

technical field [0001] The invention relates to the application of mitochondrial DNA single nucleotide polymorphism related to the occurrence of high altitude pulmonary edema in the field of individual susceptibility detection in the crowd prevention of high altitude pulmonary edema. Background technique [0002] High altitude pulmonary edema (High altitude pulmonary edema, HAPE) is the most common acute severe altitude sickness in high altitude areas. If it is not treated in time, it will endanger the lives of patients, and it is also a major problem that plagues high altitude combat troops in various countries. In recent years, a series of studies on the pathogenesis of HAPE have been carried out at home and abroad. Unfortunately, the pathogenesis is still unclear. The possible mechanism is generally accepted as follows: on the one hand, it is caused by congenital or acquired factors. Some important functional defects of pulmonary blood vessels and alveolar respiratory epi...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 王艳封志纯
Owner 中国人民解放军总医院第七医学中心