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Oculopharyngodistal myopathy biomarker and detection method and use thereof

A biomarker and remote technology, applied in the field of biomedicine, can solve the problems of OPDM misdiagnosis, diagnosis delay, lack of genetic diagnostic indicators, etc.

Pending Publication Date: 2021-10-26
PEKING UNIV FIRST HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

For a long time, the pathogenic gene of the disease has not been known, and the lack of genetic diagnostic indicators has led to frequent misdiagnosis and delayed diagnosis of OPDM

Method used

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  • Oculopharyngodistal myopathy biomarker and detection method and use thereof
  • Oculopharyngodistal myopathy biomarker and detection method and use thereof
  • Oculopharyngodistal myopathy biomarker and detection method and use thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0051] Embodiment 1 Qualitative detection primer design

[0052] In this example, primers for qualitative detection are designed based on biomarkers of distal oculopharyngeal myopathy, as follows: GIPC1-F: as shown in SEQ ID NO.1; GIPC1-R: as shown in SEQ ID NO.2; GIPC1-linker -R: as shown in SEQ ID NO.3.

[0053] Further, the 5' end of one of the qualitative detection primers is labeled with a fluorescent reporter group, and the fluorescent reporter can be FAM (6-carboxyfluorescein), TET (tetrachloro-6-carboxyfluorescein), JOE (2,7-dimethyl-4,5-dichloro-6-carboxyfluorescein), HEX (hexachloro-6-methylfluorescein) or VIC, in this implementation, select the primer GIPC1-F The 5' end is labeled with the FAM fluorophore.

Embodiment 2

[0054] Embodiment 2 quantitative detection primer design

[0055] In this embodiment, primers for quantitative detection are designed based on biomarkers of distal oculopharyngeal myopathy, as follows: GIPC1-AL-F: as shown in SEQ ID NO.4; GIPC1-AL-R: as shown in SEQ ID NO.5 Show.

[0056] Further, the 5' end of one of the quantitative detection primers is labeled with a fluorescent reporter group, and the fluorescent reporter can be FAM (6-carboxyfluorescein), TET (tetrachloro-6-carboxyfluorescein), JOE (2,7-dimethyl-4,5-dichloro-6-carboxyfluorescein), HEX (hexachloro-6-methylfluorescein) or VIC, in this implementation, the primer GIPC1-AL- The 5' end of F is labeled with the VIC fluorophore.

Embodiment 3

[0057] Example 3 A kit for detecting biomarkers of distal oculopharyngeal myopathy

[0058] This embodiment provides a kit for detecting biomarkers of distal oculopharyngeal myopathy, including the primers in Embodiment 1 packaged independently.

[0059] Further, it also includes an independently packaged qualitative detection PCR reaction system, as follows:

[0060] Contains 0.25 U Prime STAR GXL DNA Polymerase, 1× PrimeSTAR GXL Buffer, 200 μM dATP, 200 μM dTTP, 200 μM dCTP, 200 μM 7-Deaza-dGTP, 5% dimethyl sulfoxide, and 1 M betaine.

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Abstract

The invention relates to the field of biological medicine, in particular to an oculopharyngodistal myopathy (OPDM) biomarker and detection method and use thereof, and provides use of a GIPC1 gene in preparing a product for diagnosing, detecting or treating the OPDM. Researches show that a repeated abnormal amplification of GGC or CGG in a 5 'UTR region of the GIPC1 gene is a brand new pathogenic mutation of the OPDM. The mutation is the most common pathogenesis in patients with the OPDM in China at present, such that that the GIPC1 gene is used for preparing a product for diagnosing, detecting or treating the OPDM, the most common pathogenic gene in the patients with the OPDM in China and provides an important basis for gene diagnosis, gene therapy and pathogenesis researches of the OPDM in China.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular to a biomarker and detection method of distal oculopharyngeal myopathy and its application. Background technique [0002] Oculopharyngodistal myopathy (OPDM [MIM:164310]) is a rare hereditary neuromuscular disease with onset in early adulthood. The typical clinical manifestations of the disease are youth-onset, slowly progressive symmetrical ptosis, external ophthalmoplegia, facial muscle weakness, coughing when drinking water, dysphagia and other local symptoms, as well as muscle weakness mainly in the distal limbs. For a long time, the pathogenic gene of the disease has not been known, and the lack of genetic diagnostic indicators has led to misdiagnosis and delayed diagnosis of OPDM. Therefore, finding the causative gene of OPDM is of great significance in the diagnosis, gene therapy and pathogenesis research of the disease. [0003] At present, regarding the research on the pathogen...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/686C12N15/11
CPCC12Q1/6883C12Q1/686C12Q2600/156C12Q2521/101
Inventor 邓健文于佳希王朝霞袁云
Owner PEKING UNIV FIRST HOSPITAL
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