Detection primers, method and kit for myodystonia VPS16 gene

A technology of VPS16 and detection kits, applied in biochemical equipment and methods, measurement/testing of microbes, DNA/RNA fragments, etc., can solve the problems of judging whether a patient who is suspected of having the disease is ill or not, and achieves an early diagnosis rate high effect

Inactive Publication Date: 2015-03-04
THE SECOND PEOPLES HOSPITAL OF SHENZHEN +1
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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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  • Detection primers, method and kit for myodystonia VPS16 gene
  • Detection primers, method and kit for myodystonia VPS16 gene
  • Detection primers, method and kit for myodystonia 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 invention provides detection primers for a myodystonia VPS16 gene. The primers are characterized by comprising a forward primer P1 with a base sequence shown in SEQ.ID.No.1 in a sequence table and a reverse primer P2 with a base sequence shown in SEQ.ID.No.2 in the of sequence table. By adopting the detection primers, DNA of a standard sample can be directly amplified to obtain VPS16 gene to be analyzed and judged, the one-sidedness of conventional mutation detection such as TOR1A, THAP1 and GCH1 is overcome, the process can be completed through an ordinary PCR method directly, and the detection primers have the advantages of rapidness, accuracy, high efficiency, simplicity, convenience, high early-stage diagnostic rate and the like; and the detection results can provide scientific assistance for early-stage diagnosis and differential diagnosis for myodystonia and development of myodystonia 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 Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12N15/11C12Q1/68C12Q1/6883C12Q2600/156
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
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