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Parkin gene mutation relating to Parkinson's disease and its detection method

A gene and mutant gene technology, applied in the field of Parkin gene mutation and mutation site detection, can solve the problems of huge investment, laborious, time-consuming, etc., and achieve the effect of wide length range, fast detection speed and high accuracy

Inactive Publication Date: 2009-11-11
XUANWU HOSPITAL OF CAPITAL UNIV OF MEDICAL SCI
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  • Abstract
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Problems solved by technology

Although the method of direct sequencing is accurate and can directly obtain the results, it is time-consuming, laborious and expensive

Method used

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  • Parkin gene mutation relating to Parkinson's disease and its detection method
  • Parkin gene mutation relating to Parkinson's disease and its detection method
  • Parkin gene mutation relating to Parkinson's disease and its detection method

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Embodiment

[0040] The detection method of the present invention is used to detect the mutation sites of the above-mentioned known genes. Of course, the method can also be used to detect unknown mutations of the parkin gene, but the design of the primers will be different. The concrete steps of detection method of the present invention are as follows:

[0041] Step 1 DNA sample extraction

[0042] Specimen Collection and Processing

[0043] Take 10ml of cubital venous blood (sodium citrate anticoagulant) from the tested subjects, store it at 4°C, and use the following method to extract DNA within two weeks for future use.

[0044] DNA extraction

[0045] Use the second edition of "Molecular Cloning" to extract DNA from total blood. The specific steps are as follows:

[0046] 1) Add 10ml of cubital venous blood into a test tube containing 1.75ml of acid citrate dextrose solution B (ACD) and mix well;

[0047] 2) Place the test tube in a high-speed centrifuge at 3000 rpm, centrifuge f...

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Abstract

The invention relates to gene mutations related to Parkinson's disease and a detection method thereof. The method comprises: extracting DNA samples; designing primers; PCR amplification; using dHPLC technology for nucleotide analysis; performing gene sequencing on dHPLC-positive samples, To determine its genotype; β-actin internal control was performed on samples negative for repeat expansion to exclude exon deletion mutations. In the parkin gene mutation of the present invention, in the promoter codon region of the parkin gene, at the second base in exon 1, ATG is mutated to ACG; in exon 6, at the junction of the fifth intron and the sixth exon In exon 9, AG is mutated to AC; in exon 6, the 727th base, G is mutated to A; in exon 9, the 1016th base C is mutated to T, which is located in the middle of the ring finger, in Znf_C6HC The zinc finger region makes GCG mutated to GTG. The gene mutation and the detection method thereof of the present invention can detect the mutation site of the parkin gene with high efficiency and low cost, and further perform ultra-early diagnosis on potential PD patients.

Description

technical field [0001] The invention relates to a gene and a detection method thereof, in particular to a detection method of Parkin gene mutation and mutation site. Background technique [0002] The development of population aging makes senile diseases become an increasingly serious social problem. Statistics show that my country's elderly population over 60 years old has accounted for 10% of the national population (Beijing has exceeded 15%), and will reach 25% of the total population in 2030. Parkinson's disease (PD) is a progressive neurodegenerative disease closely related to aging. According to reports, the prevalence of PD in my country is more than 57-300 per 100,000 population, and the prevalence among people over 60 years old is more than 2%. It is conservatively estimated that there are one million PD patients in my country. Because PD seriously affects the patient's exercise and living ability, the disability rate is high, and the course of the disease can las...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/11C07H21/04C12Q1/68
Inventor 陈彪邹海强
Owner XUANWU HOSPITAL OF CAPITAL UNIV OF MEDICAL SCI
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