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A technique for gene diagnosis and Parkinson's disease, applied in the field of molecular biology, to achieve the effect of reducing missed diagnosis and misdiagnosis rate
Active Publication Date: 2015-09-23
江苏雄鸣医药科技有限公司
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Traditional allele-specific PCR results are intuitive and reliable, but only one mutation site can be identified at a time
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Embodiment 1
[0045] Determination of the gene of embodiment 1, primer design and kit composition and amplification procedure
[0046] The 11 genes involved in the present invention are related to PD disease, and the correlation has been reported in the literature. The sequences of 11 genes can be obtained through the following ways.
[0047] The gene sequence can be retrieved at http: / / www.ncbi.nlm.nih.gov / pubmed according to the following gene ID
[0048] Table 1 Gene ID
[0049] Gene
gene ID
SNCA
6622
parkin
5071
UCHL-1
7345
Pink1
65018
DJ-1
11315
ATP13A2
23400
[0050] GIGYF2
26058
HTRA2
27429
FBX07
25793
Vps35
55737
MAPT
4137
[0051] The primers were designed according to the conserved regions of each gene, and the primers were used to specifically amplify all CDS regions of each gene. The forward and reverse primers were designed i...
Embodiment 2
[0064] The gene diagnosis of embodiment 2 Parkinson's disease
[0065] Use the test kit of embodiment 1, carry out the application of embodiment 2, specifically carry out according to the following steps respectively:
[0066] In the Parkinson's disease genetic diagnosis kit provided by the present invention, the detection sample may be the blood, body fluid, hair, bone, cell or tissue specimen of the individual to be tested. In this example, the same standard cell line as in Example 1 was used.
[0067] 1. Extraction of individual human fibroblast skin cell RNA to be tested:
[0068] 1. Take the sample to be tested, add 1ml Trizol, mix on ice, mash and homogenate; let stand on ice for 10min;
[0069] 2. Add 200 μl chloroform to the homogenate, shake vigorously for 15 seconds, and incubate at room temperature for 10 minutes
[0070] 3.4℃, 12000g / min, centrifuge for 15min
[0071] 4. Take the water phase (upper layer), add 500 μl isopropanol, shake gently, and incubate at r...
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Abstract
The invention discloses a Parkinson's disease gene diagnosis kit which comprises 11 pathogenic genes of the Parkinson's disease namely SNCA,Parkin,Pink1,UCHL-1,DJ-1,ATP13A2,GIGYF2,HTRA2,FBX07,Vps35 and MAPT. A detection method comprises the following steps: designing and synthesizing specific primers of all genes, collecting specimens of individuals to be detected, sequencing specific DNA fragments obtained by all genes through a RT-PCR technology, comparing the gene sequence with a normal gene sequence, and analyzing whether deleterious mutations exit or not to evaluate disease risks of the individuals. By adopting the Parkinson's disease gene diagnosis kit disclosed by the invention, different deleterious mutations of a pathogenic gene protein coding region (CDS) can be detected at a time, the method is simple, convenient and rapid, the specificity is good, the sensitivity is high and the Parkinson's disease gene diagnosis kit can be used for pathogenic gene screening and early diagnosis of the Parkinson's disease.
Description
technical field [0001] The invention relates to a gene diagnosis kit for Parkinson's disease, which belongs to the technical field of molecular biology. Background technique [0002] Parkinson's disease (PD) was first described by British doctor James Parkinson in 1817. It is a kind of neurological dysfunction disease with a prevalence rate second only to Alzheimer's Disease (Alzheimer's Disease), accounting for about 1% to 2% of the world. of people over the age of 60 suffer from Parkinson's disease (Cardo LF.; Cote E.; Mena L.; et al. Mol Neurosci. 2012, 47, 425). The main pathological feature is the degeneration of dopamine (DA) neurons in the substantia nigra compacta and the formation of eosinophilic inclusion bodies in the cytoplasm, namely Lewy bodies, resulting in the destruction of the nigrostriatal pathway and the decrease of DA content in the caudate nucleus and putamen. Typical clinical symptoms are resting tremor, muscle rigidity, bradykinesia and abnormal post...
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