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Ankylosing spondylitis susceptibility and mononucleotide polymorphism detection method, kit and use thereof

Ankylosing spondylitis, single nucleotide polymorphism technology, applied in the field of medical detection

Active Publication Date: 2015-06-10
THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0010] The application of the present invention is to provide an early and highly specific method for detecting the susceptibility of ankylosing spondylitis in view of the lack of specific detection methods and related kits in the early diagnosis of ankylosing spondylitis. and its kit

Method used

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  • Ankylosing spondylitis susceptibility and mononucleotide polymorphism detection method, kit and use thereof
  • Ankylosing spondylitis susceptibility and mononucleotide polymorphism detection method, kit and use thereof
  • Ankylosing spondylitis susceptibility and mononucleotide polymorphism detection method, kit and use thereof

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Experimental program
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Effect test

Embodiment 1

[0044] A study on the correlation between SNP rs13198903 and the pathogenesis of ankylosing spondylitis

[0045] 1.1 Research object

[0046] The 1,837 sporadic cases of AS in the study were mainly outpatients or inpatients in the Third Affiliated Hospital of Sun Yat-sen University from 2005 to 2009. These AS patients were evaluated by experienced rheumatologists based on clinical manifestations and imaging studies. The AS patients who met the revised New York criteria in 1984 were diagnosed by the examination results. For each AS patient, after being informed of the purpose of the study, he agreed to draw blood for the study and signed an informed consent form.

[0047] The 4,231 healthy volunteer control groups mainly included healthy volunteer control groups without AS symptoms or medical history in Guangdong, Anhui and Singapore. These healthy volunteers also agreed to draw blood for the study after being informed , and signed the informed consent.

[0048] When collect...

Embodiment 2

[0074] Study on the correlation between SNP rs13198903 and the pathogenesis of ankylosing spondylitis II

[0075] 2.1 Research object

[0076] The 2205 cases of sporadic AS cases in the study were mainly AS patients who were outpatients or hospitalized in the Third Affiliated Hospital of Sun Yat-sen University from 2005 to 2009 and samples obtained from some other hospitals. These AS patients were all treated by experienced rheumatologists. We diagnosed AS patients who met the 1984 New York revised criteria based on clinical manifestations and imaging findings. For each AS patient, after being informed of the purpose of the study, he agreed to draw blood for the study and signed an informed consent form.

[0077] The 3702 cases of healthy volunteer control population mainly came from the healthy volunteer population collected by the Third Affiliated Hospital of Sun Yat-Sen University and Sun Yat-sen University Cancer Center, which were all healthy volunteer control population...

Embodiment 3

[0097] 3.1.1 Research object

[0098] The subjects in the study were all AS populations and healthy control populations in Embodiment 1 and Embodiment 2. These AS cases were all diagnosed by experienced rheumatologists based on clinical manifestations and imaging examination results in accordance with the 1984 New York Revised criteria for AS patients. For each AS patient, after being informed of the purpose of the study, he agreed to draw blood for the study and signed an informed consent form. Finally, a total of 3937 AS patients and 7727 healthy volunteer controls were included in the study.

[0099] 3.2.2 Extraction of DNA

[0100] In the specimen to be tested, use the TIANamp Blood DNA kit Blood Genomic DNA Extraction Kit to extract DNA from human peripheral blood samples. The kit consists of: cell lysis night, buffer GS, buffer GB, buffer GD , washing solution PW, elution buffer TB, proteinase K, adsorption column CB3, collection tube (2ml) and 1.5mL sterile collectio...

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Abstract

Disclosed in the present invention application is an ankylosing spondylitis susceptibility detection method, the method comprising: detecting a base on the mononucleotide polymorphism site rs13198903 of a sample, the ankylosing spondylitis susceptibility noticeably increasing when the base is T. Also disclosed are a corresponding kit and use thereof.

Description

technical field [0001] The application of the present invention relates to a detection method, kit and application of ankylosing spondylitis susceptibility single nucleotide polymorphism (SNP), and belongs to the technical field of medical detection. Background technique [0002] Ankylosing spondylitis (AS) is a subtype of spondyloarthropathies (SpA), and its main clinical manifestations are inflammatory low back pain, morning stiffness, restricted spinal mobility and other axial manifestations, or / And concurrent peripheral arthritis, tendon terminal, ligament enthesitis, and in the advanced stage of the disease, spinal stiffness or deformity will occur. In previous studies, it was believed that the role of genetic factors played a more important role in the pathogenesis of AS. Previous studies based on twins showed that the high consistent incidence rate in monozygotic twins and fraternal twins suggested genetic factors. The role in the pathogenesis of AS exceeds 90%. ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 古洁若
Owner THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIV