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SNP locus related to auxiliary diagnosis of chronic obstructive pulmonary disease susceptibility and application SNP locus

A technology for assisting diagnosis of chronic obstructive pulmonary disease, applied in the field of genes, which can solve the problems of α1-antitrypsin deficiency, antiprotease-protease imbalance, and lung parenchyma damage.

Pending Publication Date: 2020-09-15
THE FIRST AFFILIATED HOSPITAL OF GUANGZHOU MEDICAL UNIV (GUANGZHOU RESPIRATORY CENT)
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Problems solved by technology

[0003] At present, only SERPINA1 (serpin peptide inhibitor, clade A, member 1) is the pathogenic gene that is clearly related to COPD. Mutations in this gene lead to α1-antitrypsin deficiency, which in turn leads to an antiprotease-protease imbalance, causing damage to the lung parenchyma. COPD

Method used

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  • SNP locus related to auxiliary diagnosis of chronic obstructive pulmonary disease susceptibility and application SNP locus
  • SNP locus related to auxiliary diagnosis of chronic obstructive pulmonary disease susceptibility and application SNP locus
  • SNP locus related to auxiliary diagnosis of chronic obstructive pulmonary disease susceptibility and application SNP locus

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Embodiment 1

[0016] First through the dbSNP database ( www.ncbi.nlm.nih.gov / snp , GRCh37p13, 29 / 11 / 2014), and screened out the IL22 gene and its upstream and downstream 3kb regions, with a MAF value (Minor Allele Frequency, minimum allele frequency) > 0.05 SNP sites, a total of 11 (see table for details 1). Then, 30 samples of healthy people in Guangdong, China were randomly selected, and several fragments containing the target SNP sites were obtained through PCR reactions, and each fragment pair was subjected to sanger sequencing to obtain the typing of each SNP site. The obtained data were analyzed using haploview 4.2 software for linkage disequilibrium (r2>0.8), and a total of 4 LD blocks were found (see figure 1 ), select one SNP site in each LD block as the tag-SNP site. Finally, four TagSNP sites were obtained (see Table 2 for specific information), namely: rs2227478, rs2227481, rs2227484 and rs2227485.

[0017] The next step is to verify the 4 TagSNP sites through case-control. ...

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Abstract

The invention discloses an SNP locus related to auxiliary diagnosis of chronic obstructive pulmonary disease susceptibility. The SN locus is rs2227485 and has C / T polymorphism, and compared with a TT+TC genotype, the SN locus has the characteristic that when the genotype is CC, it is judged that an individual is a chronic obstructive pulmonary disease non-susceptible individual. The invention alsodiscloses an application of the SNP locus in preparation of a product for auxiliary diagnosis of chronic obstructive pulmonary disease susceptibility. The SNP locus is beneficial to comprehensive evaluation of COPD occurrence, development and prognosis of Chinese Han people, and has important significance for guiding prevention and screening of COPD high-risk people.

Description

technical field [0001] The invention belongs to the field of gene technology, and specifically relates to SNP sites related to auxiliary diagnosis of chronic obstructive pulmonary disease susceptibility and applications thereof. Background technique [0002] Chronic Obstructive Pulmonary Disease (COPD), referred to as COPD, is a common chronic respiratory disease, which is related to the combined effects of environmental and genetic factors. The main clinical manifestations of COPD are chronic cough and sputum, with or without wheezing. Progression of the disease causes progressive exacerbation of shortness of breath. Acute exacerbation and complications affect the severity of the disease. It can be fatal in severe cases. According to the World Health Organization, there are currently 600 million people suffering from COPD in the world, and an average of 2.7 million people die from COPD every year. COPD has become the fourth leading cause of death in the world after cerebr...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/172Y02A50/30
Inventor 卢文菊王彦周琪鹏徐静仪王健
Owner THE FIRST AFFILIATED HOSPITAL OF GUANGZHOU MEDICAL UNIV (GUANGZHOU RESPIRATORY CENT)
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