Parkinson's disease biomarker and application thereof

A biomarker, Parkinson's disease technology, used in the determination/examination of microorganisms, biochemical equipment and methods, and medical data mining, etc., can solve problems such as low reliability, patients cannot be diagnosed at an early stage, and poor reproducibility

Active Publication Date: 2021-05-18
GUANGZHOU KINGMED DIAGNOSTICS CENT
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] The currently widely used method for diagnosing Parkinson's disease mainly refers to clinical observation and imaging examination, but this method is more dependent on the doctor's experience, and the patient has already had motor symptoms (that is, it cannot be diagnosed in the early stage)
[0006] Midbrain ultrastructure detected by transcranial ultrasonography is a proposed diagnostic biomarker for Parkinson's disease, but many experts have found this method to be problematic with low reliability and poor reproducibility

Method used

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  • Parkinson's disease biomarker and application thereof
  • Parkinson's disease biomarker and application thereof
  • Parkinson's disease biomarker and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0037] Sample collection and testing.

[0038] 1. Sample collection.

[0039]A total of 959 peripheral blood samples from patients with clinically confirmed Parkinson's disease and 930 peripheral blood samples from normal controls (non-Parkinson's disease patients) were collected.

[0040] 2. Sample testing.

[0041] The commercial Illumina HumanMethylation450 BeadChip chip was used to detect methylation, and the routine experimental procedures were followed. The main experimental procedures include:

[0042] 1. Extract sample DNA and amplify;

[0043] 2. Use enzymes to break DNA to fragment it;

[0044] 3. Separation and purification of DNA fragments and addition of adapters;

[0045] 4. Hybridization of DNA fragments with chips;

[0046] 5. On-chip detection on the chip.

Embodiment 2

[0048] 1. Screening of methylation sites.

[0049] 1. Build a model.

[0050] The methylation b-value data of all sites obtained in Example 1 is obtained, and the following table is the b-valre table of partial methylation sites of some samples.

[0051] Table 1. The b-valre values ​​of partial methylation sites in some samples

[0052] cg01178063 cg04391849 cg19935097 cg08456555 cg07764932 ch.X.1084407R X3998888019_R01C01 0.841253 0.860352 0.778807 0.655859 0.711761 0.210351 X3998888019_R02C01 0.875661 0.862716 0.754701 0.483736 0.625609 0.133967 X3998888019_R03C01 0.812792 0.878358 0.809183 0.61919 0.659191 0.173098 X3998888019_R04C01 0.838204 0.841 0.81151 0.650056 0.718287 0.162545 X3998888019_R05C01 0.571084 0.699354 0.715755 0.355657 0.443063 0.110286

[0053] Based on a single methylation site, the feature vector of the sample is constructed, that is, the eigenvalue vector of a sample is c...

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Abstract

The invention relates to a Parkinson's disease biomarker and application thereof, and belongs to the technical field of medical diagnosis. The biomarker comprises the methylation degree of at least one gene locus in the genes of GPR183, WDR46, PFDN6, SGCE, PEG10, EMX2OS, NFATC4, GJB1, IGF1R, UBAC2, ICA1L, ACRC, PAX6, ALX4, HIST1H4C, HSPA1L, LOC645323, BCYRN1, IGF2BP3, ZNF808, OTUD6A, NELL2, TAF1, EMX2, ARHGAP6, and RALYL. Only the methylation site of the Parkinson's disease biomarker needs to be directionally detected, the experimental method and the judgment method can be standardized, and misdiagnosis caused by human subjective deviation is avoided. Moreover, the Parkinson's disease biomarker can be detected from biological samples such as peripheral blood before the motor symptom of a patient attacks, so that the aim of early diagnosis can be fulfilled.

Description

technical field [0001] The invention relates to the technical field of medical diagnosis, in particular to a biomarker of Parkinson's disease and its application. Background technique [0002] "Parkinson's disease" (PD) is one of the most common neurodegenerative diseases in the world. Tremor refers to shaking and shaking of the head and limbs, and paralysis refers to the inability to move a part or all of the limbs voluntarily. Generally, the onset begins at the age of 50-65, and the incidence rate increases gradually with age. The incidence rate at the age of 60 is about 1‰, and the incidence rate at the age of 70 reaches 3‰-5‰. There are currently more than 1.7 million people in my country suffering from this disease. disease. Parkinson's disease is a common chronic and progressive degenerative disease of the nervous system, characterized by four main symptoms of "bradykinesia, muscle rigidity, resting tremor and abnormal posture". [0003] The diagnosis of Parkinson's ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883G16H50/20G16H50/70
CPCC12Q1/6883G16H50/20G16H50/70C12Q2600/118C12Q2600/154
Inventor 刘晶星胡昌明喻长顺孙明明于世辉方萍
Owner GUANGZHOU KINGMED DIAGNOSTICS CENT
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