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Parkinson disease pathogenic gene and detection kit

A technology for detection kits and disease-causing genes, which can be used in the determination/testing of microorganisms, DNA/RNA fragments, recombinant DNA technology, etc. problem, to achieve the effect of simple and easy detection

Active Publication Date: 2017-06-13
THE THIRD XIANGYA HOSPITAL OF CENT SOUTH UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] Due to the complex genetic mechanism of PD with clinical and genetic heterogeneity, there is currently a lack of rapid and accurate detection techniques for the detection of PD pathogenic genes

Method used

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  • Parkinson disease pathogenic gene and detection kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0031] A Parkinson's disease-causing gene, which comprises a nucleotide sequence of gene mutation (SEQ ID NO.33):

[0032] TCTGCCTGTTCTCTGAAGGGctaaacaagctgtggctgctctgggggtcattgttcagaggaccatctttctcttcctgcaggtgtcagcggaagcagtggcgggtggatctgccggccaccagcgtggtgatcacgtttcacaatgaagccaggtcggccctactcaggaccAtggtcaggtgaggccaggagatgcattacctgtcaggggtgttaagacattagctgtgtcCCAGGCACAGTCAGACCAG。

[0033] The normal nucleotide sequence is (SEQ ID NO.34):

[0034] tctgcctgttctctgaagggctaaacaagctgtggctgctctgggggtcattgttcagaggaccatctttctcttcctgcaggtgtcagcggaagcagtggcgggtggatctgccggccaccagcgtggtgatcacgtttcacaatgaagccaggtcggccctactcaggaccGtggtcaggtgaggccaggagatgcattacctgtcaggggtgttaagacattagctgtgtcccaggcacagtcagaccag。

[0035] The causative gene was identified using the following method:

[0036] A three-generation autosomal dominant PD family was collected ( figure 1 ) member's peripheral venous blood sample 10ml, after EDTA-K 2 Anticoagulation, the conventional phenol-chloroform method was used to ...

Embodiment 2

[0048] Example 2: A detection kit for Parkinson's disease-causing genes.

[0049] The specific components and contents of the detection kits for the aforementioned PD pathogenic genes are listed in Table 2.

[0050] Table 2: Component list of the detection kit for the PD pathogenic gene of Example 1

[0051]

Embodiment 3

[0052] Embodiment 3: Application of a detection kit of Embodiment 2 in the detection of Parkinson's disease-causing genes.

[0053] Take normal subjects (Ⅲ:6) and patients (Ⅲ:4) as subjects respectively, and perform the following operations:

[0054] 1. Genomic DNA extraction: Collect 10ml of peripheral venous blood samples from two subjects, anticoagulate with EDTA-K2, extract genomic DNA with conventional phenol-chloroform method, measure DNA concentration and OD value with a spectrophotometer, and then dilute to 100ng / μl for later use .

[0055] 2. PCR amplification: use the detection kit designed in Example 2 to amplify the genomic DNA extracted in step 1 to obtain PCR amplification products. The components of the PCR reaction system (25 μl) are: 1 μl of DNA template (ie, the genomic DNA extracted in step 1); 2.5 μl of 10×PCR Buffer; 2.0 μl of 25 mM MgCl 2 10mM dNTP Mix of 0.32 μl; Forward primer (10 μmol / L) of 1.0 μl embodiment 2; Reverse primer (10 μmol / L) of 1.0 μl em...

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Abstract

The invention discloses a Parkinson disease pathogenic gene and a detection kit. The Parkinson disease pathogenic gene is a gene which changes G gene into A gene at a 446th basic group of a GALNT2 gene coding region. The detection kit comprises a primer, wherein the primer is a primer designed according to all exons of a GALNT2 gene and an exon-intron junction region sequence; the primer is used for carrying out PCR (Polymerase Chain Reaction) amplification; a product obtained by the PCR amplification comprises the GALNT2 gene exon and a nucleotide sequence of an exon-intron junction region. The detection kit provided by the invention combines the PCR amplification and Sanger sequencing; the mutation of the PD pathogenic gene GALNT2 gene is detected; the detection kit is applied to clinical gene diagnosis and has the advantages that the detection is convenient and rapid, the accuracy reaches 100 percent and the like.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to a Parkinson's disease-causing gene and a detection kit. Background technique [0002] Parkinson's disease (PD; MIM 168600), also known as Parkinson's disease, is a common motor system disorder and the second most common progressive neurodegenerative disease after Alzheimer's disease. Epidemiological data show that the prevalence rate has a certain relationship with age. The prevalence rate of people over 65 years old is about 1%, and the prevalence rate of people over 85 years old increases to about 4% to 5%. The average age of onset of PD is 70 years old, the standardized incidence rate of PD is estimated to be 8-18 / 100,000 / year, and the lifetime risk of disease is about 1.5%. In addition, gender may also affect the incidence of PD, and several prospective studies have found that the incidence rate of men is higher than that of women. The typical symptoms of PD motor sy...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 邓昊袁腊梅邓雄虢毅宋治徐洪波邓晟
Owner THE THIRD XIANGYA HOSPITAL OF CENT SOUTH UNIV
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