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Gene mutation targets related to paroxysmal movement-induced dyskinesia and its application

A movement disorder and mutation site technology, applied in the field of medical biological detection, can solve problems such as troubles and no relevant literature reports, and achieve the effects of simple operation, high repeatability and sensitive detection.

Active Publication Date: 2022-04-05
RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0008] Therefore, it can be expected that if only a few known PRRT2 hotspot mutations are performed on PKD patients for next-generation sequencing, and the same genetic diagnosis strategy is used for all PKD patients, the results must have a certain negative probability. Negative patients will inevitably bring great troubles to the formulation of eugenics in the future
However, so far, no one has conducted a detailed exploration of the mutation site of the main pathogenic gene PRRT2 gene based on a large number of samples of patients with paroxysmal movement-induced dyskinesia, and found a new mutation site with strong pathogenicity, and there are no related literature reports

Method used

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  • Gene mutation targets related to paroxysmal movement-induced dyskinesia and its application
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  • Gene mutation targets related to paroxysmal movement-induced dyskinesia and its application

Examples

Experimental program
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Effect test

Embodiment 1

[0050] Example 1 Detection of four mutation targets of PRRT2 pathogenic gene

[0051] 1. Sample collection

[0052] Peripheral blood samples from 284 cases of paroxysmal movement-induced dyskinesia confirmed by clinical evaluation and various auxiliary examinations were collected and placed in a 4°C refrigerator. All patients signed informed consent, and the experimental protocol was approved by the Ethics Committee of Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine.

[0053] 2. Total DNA extraction

[0054] (1) Transfer 3ml of anticoagulant blood to a 15ml round-bottomed centrifuge tube, add 9ml of red blood cell lysate (1×), close the cap tightly, turn it upside down repeatedly, and place it in an ice bath for 30 minutes.

[0055] (2) Centrifuge at 3,000rpm for 10min, discard the supernatant, invert on clean straw paper to absorb excess liquid, add 3ml nuclear lysate (1×) and 300μl 10% SDS to the bottom of the tube, and mix well to make the li...

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Abstract

The invention relates to the technical field of medical biological detection, in particular to gene mutation targets related to paroxysmal motor-induced dyskinesias, and the use of these gene mutation targets in diagnosing or treating paroxysmal motor-induced dyskinesias and evaluating paroxysmal motor-induced dyskinesias. Use of a reagent or kit for prognosis of movement disorders. The present invention has discovered the mutation targets c.1012+5g>a, c.959C>T, c.971_972insG and c.761C>T of the main pathogenic gene PRRT2 gene of paroxysmal movement-induced dyskinesia. The mutation targets of these genes The points can be effectively used in the development judgment, treatment plan selection and / or prognosis evaluation of paroxysmal movement-induced dyskinesia, and have a certain clinical application prospect.

Description

technical field [0001] The invention relates to the technical field of medical biological detection, and relates to gene mutations related to paroxysmal motor-induced dyskinesias, and reagents for diagnosing or treating paroxysmal motor-induced dyskinesias and evaluating the prognosis of paroxysmal motor-induced dyskinesias. or kit applications. Background technique [0002] Paroxysmal kinesigenic dyskinesia (PKD) is a type of recurrent involuntary movement disorder, and it is the most common subtype of paroxysmal dyskinesias (PxDs). Presents as involuntary movements of the extremities or trunk or abnormal postures evoked from resting to sudden voluntary movements, may manifest as dystonia, choreoathetosis, or throwing movements, single episodes of short duration (several seconds to 1 minute), there was no pain and loss of consciousness during the attack, and the interval between attacks returned to normal. [0003] The onset of PKD is more common in infants or adolescents...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/118
Inventor 田沃土曹立
Owner RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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