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Method for detecting specific single nucleotide polymorphism related to ankylosing spondylitis and kit therefor

Ankylosing spondylitis, kit technology, applied in the field of biomedical 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 aims at the lack of specific detection methods and related kits in the early diagnosis of AS at present, and provides a highly specific inspection method and a special kit

Method used

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  • Method for detecting specific single nucleotide polymorphism related to ankylosing spondylitis and kit therefor
  • Method for detecting specific single nucleotide polymorphism related to ankylosing spondylitis and kit therefor
  • Method for detecting specific single nucleotide polymorphism related to ankylosing spondylitis and kit therefor

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0044] Study on the correlation between SNP rs4552569 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 collecting...

Embodiment 2

[0073] Study on the correlation between SNP rs4552569 and the pathogenesis of ankylosing spondylitis II

[0074] 2.1 Research object

[0075] 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.

[0076] 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

[0098] 3.1.1 Research object

[0099] The subjects in the study were all AS populations and healthy control populations in Example 1 and Example 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.

[0100] 3.2.2 Extraction of DNA

[0101] 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 collection tube...

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Abstract

Provided is a nucleotide fragment with single nucleotide polymorphism related to ankylosing spondylitis. Among ankylosing spondylitis patients, the frequency of C at the site of rs4552569 of the nucleotide fragment is significantly higher than that in healthy controls, whereas the frequency of T at the same site is significantly lower than that in healthy controls; that is, when the base at the site of rs4552569 is C, the diagnosis of AS disease can effectively be assisted. Also provided are a method for detecting corresponding single nucleotide polymorphism related to ankylosing spondylitis and a kit therefor, and the method and kit can be used to perform specific auxiliary diagnosis of ankylosing spondylitis at an early stage.

Description

technical field [0001] The application of the present invention relates to a method and a special kit for detecting specific single nucleotide polymorphism (SNP) related to ankylosing spondylitis, belonging to the technical field of biomedical 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 endings, enthesitis of ligaments, and in the advanced stage of the disease, spinal ankylosis 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 ...

Claims

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Application Information

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IPC IPC(8): C12N15/11C12Q1/68A61K31/7088A61P19/02
CPCA61K31/7088A61P19/02C12Q1/6883C12Q2600/156
Inventor 古洁若
Owner THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIV