Composition for detecting schizophrenia-related SNP sites of Chinese population, product and application thereof
A technology of schizophrenia and composition, applied in genomics, proteomics, bioinformatics, etc., to achieve the effect of low cost, high sensitivity, and short detection cycle
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Embodiment 1
[0031] Example 1 Collection and Screening of Detection Sites
[0032] First, search for relevant literature in the PubMed database (https: / / pubmed.ncbi.nlm.nih.gov / ) by keywords "Chinese", "Han", "Schizophrenia", "Genome-wide association" and "Meta", and screen GWAS and Meta-analysis research based on Chinese population schizophrenia. In the selected studies, MAF>0.01 and Harwin equilibrium test (P-value>1*10 -6 ) filter, from which OR values > 1 and P -5 There are 15 SNP sites in total. Then through the HGMD database (http: / / www.hgmd.cf.ac.uk / ac / index.php) to collect the Chinese population schizophrenia study, the effect is classified as DM (reported in at least one literature as causing the disease Pathological disease mutation) SNP sites, a total of 8.
[0033] The next step is to determine the mutation frequency of alleles of each SNP in the East Asian population through the dbSNP database (https: / / www.ncbi.nlm.nih.gov / snp / , version 154, 21 / 4 / 2020). Most of the frequ...
Embodiment 2
[0038] Example 2 Designing primers for the collected sites
[0039] A primer set obtained by designing primers for all the SNP sites related to schizophrenia in the Chinese population obtained above. The primer set is obtained by selecting the optimal value from 10 iterations.
[0040] The PCR primers and related information of the above SNP sites are shown in Table 2.
[0041] Table 2 PCR primers for SNP sites
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[0044]
[0045] The single-base extension primers for the above SNP sites are shown in Table 3.
[0046] Table 3 Single-base extension primers for SNP sites
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[0050]
[0051] Note: MASS refers to the mass-to-nucleus ratio (m / z) of the corresponding ion in the MassARRAY detection of the fragment including the corresponding sequence.
[0052] The method for detecting the above-mentioned SNP site by using the above-mentioned primers specifically includes:
[0053] (1) PCR amplification:
[0054] PCR a...
Embodiment 3
[0082] Example 3 Establishment of the Interpretation System for Site Detection Results
[0083] This embodiment is implemented through Python coding.
[0084] This embodiment is an analysis system for the above-mentioned SNP site, and the system at least includes a site mutation classification module, a mutation value acquisition module and a result judgment module.
[0085] The site mutation classification module is used to classify the mutation results of the above SNP sites to obtain classification values. The classification value of the site without mutation (that is, the base of the SNP site of two chromosomes is the reference base) is 0, and the heterozygous mutation or heterogeneous mutation (that is, the base of the SNP site of one chromosome is the reference base) Base, the base of the SNP site of the other chromosome is the mutation base) the classification value of the site is 1, homozygous mutation or homogeneous mutation (that is, the base of the SNP site of the ...
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