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Primers, methods and kits for detection of dystonia vps16 gene

A VPS16, detection kit technology, applied in biochemical equipment and methods, microbial determination/examination, DNA/RNA fragments, etc., can solve problems such as judging whether patients who cannot be suspected of being ill, and achieve early diagnosis rate high effect

Inactive Publication Date: 2017-07-11
THE SECOND PEOPLES HOSPITAL OF SHENZHEN +1
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

In the current research on Chinese dystonia population, pathogenic genes such as TOR1A, THAP1, GCH1, etc. have been found, but they can only explain less than 5% of the cases; therefore, the detection of existing pathogenic genes cannot accurately diagnose the suspected Accurately determine whether a sick patient is sick

Method used

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  • Primers, methods and kits for detection of dystonia vps16 gene
  • Primers, methods and kits for detection of dystonia vps16 gene
  • Primers, methods and kits for detection of dystonia vps16 gene

Examples

Experimental program
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Embodiment 1

[0036] The normal person fatherIV4, daughterV18, and patient V5 will be taken from the family (the family map is as attached figure 1 Shown) the peripheral blood sample carries out the following steps:

[0037] S10, extract whole genome DNA:

[0038] S11, take 2ml of peripheral blood sample, 150ul OB Protease, 2.1ml Buffer BL and 20ul RNase A into the EP tube, then vortex at the maximum speed for 1 minute and mix thoroughly; put it in a water bath at 65 degrees Celsius for 15-20 minutes, and in the water bath process Vortex 5 times;

[0039] S12, add 2.2ml of absolute ethanol to the EP tube, vortex at the maximum speed for 30 seconds, mix thoroughly, and lyse to obtain a lysate;

[0040] S13, transfer 3.5ml of the lysate into a 15ml centrifuge tube with a filter column, centrifuge at 4000 rpm for 5 minutes, take out the filter column, pour off the filter liquid, and put it back into the filter column;

[0041] Add the remaining lysate from step S12 into a 15ml centrifuge tu...

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Abstract

The present invention provides detection primers for a dystonia VPS16 gene. The primers are characterized by comprising an upstream primer P1 with a base sequence of SEQ. ID. No. 1 in a sequence table and a downstream primer P2 with a base sequence of SEQ. ID. No. 2 in a sequence table. By adopting the primers of the present invention, DNA of a standard sample can be directly amplified to obtain VPS16 gene to be analyzed and judged, and scientific assistance is provided for early diagnosis and differential diagnosis for dystonia and development of dystonia treatment medicine.

Description

technical field [0001] The invention belongs to the technical field of molecular bioengineering, and in particular relates to a detection primer, method and kit for dystonia VPS16 gene. Background technique [0002] Dystonia is the third most common movement disorder after essential tremor and Parkinson's disease. Its clinical manifestations are abnormal movements and postures caused by uncoordinated contraction of agonist and antagonist muscles, or excessive contraction, with involuntary characteristics of continuity and continuity. In the current research on Chinese dystonia population, pathogenic genes such as TOR1A, THAP1, GCH1, etc. have been found, but they can only explain less than 5% of the cases; therefore, the detection of existing pathogenic genes cannot accurately diagnose the suspected Accurately determine whether a sick patient is sick. Contents of the invention [0003] The purpose of the embodiments of the present invention is to overcome the above-menti...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12N15/11C12Q1/68
Inventor 李维平蔡晓东吴松刘文兰张协军陈欣何思捷刘欢张建国徐讯
Owner THE SECOND PEOPLES HOSPITAL OF SHENZHEN