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Schizophrenia related single nucleotide polymorphism site and application thereof

A schizophrenia and site technology, applied in the field of biomedicine, can solve problems such as limited application, inapplicability of the site combination model to Asian populations, and large sample groups

Inactive Publication Date: 2019-05-14
THE INST OF BASIC MEDICAL SCI OF CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

But this strategy brings another problem: due to the need to detect a large number of SNPs sites, the required sample group will become very large, which limits the application of this technology in the field of schizophrenia research to a certain extent
Although this result is significant, the included population cohort included only a small Asian population (3% schizophrenia patients, 5% healthy controls), and the locus combination model proposed in this paper may not be applicable for asian people

Method used

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  • Schizophrenia related single nucleotide polymorphism site and application thereof
  • Schizophrenia related single nucleotide polymorphism site and application thereof
  • Schizophrenia related single nucleotide polymorphism site and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0022] Example 1: Collection and preservation of samples

[0023] All subjects took 10ml morning fasting blood, collected in EDTA anticoagulant tubes, and centrifuged at 800g for 10min. Aliquot the upper plasma into 1.5ml EP tubes, centrifuge at 12000g for 5 minutes in a Thermo SORVALL 21R low-temperature centrifuge to remove cell debris, divide the upper plasma into 0.6ml EP tubes, and store in a Thermo-UGL2320V refrigerator at -20°C. Leukocyte separation medium was used to separate the remaining blood cells from monocytes and other blood cell components, and stored in liquid nitrogen.

Embodiment 2

[0024] Example 2: Detection of Schizophrenia Genetic Biomarkers

[0025] 1) Extraction of genomic DNA from peripheral blood

[0026] i) Put the blood sample into a 50ml centrifuge tube, add 5-10 times the volume of ddH 2 O, mix well, and ice-bath for 10 min to make the solution clear and transparent.

[0027] ii) Centrifuge at 3500 rpm at 4°C for 15 minutes, discard the supernatant and keep the precipitate at the bottom.

[0028] iii) Digest protein Add to each tube of pellet:

[0029] 15mM TES 5ml;

[0030] 10% SDS 250μl;

[0031] 10mg / ml proteinase K 25μl;

[0032] Mix the system, digest in a water bath at 50°C for 2 hours, and digest in a water bath at 37°C overnight.

[0033] iv) Remove protein from the system

[0034] a. Take out the centrifuge tubes from the water bath, place in ice bath for 5 minutes, add an equal volume of Tris-saturated phenol to each tube, and mix at room temperature for 5 minutes.

[0035] b. Centrifuge at 3500 rpm for 15 minutes at 4°C, and...

Embodiment 3

[0052] Example 3: Detection of genetic susceptibility loci for schizophrenia

[0053] 1) The information of 108 schizophrenia susceptibility loci is as follows in Table 1: Table 1:

[0054]

[0055]

[0056]

[0057] 2) Detection of genetic susceptibility loci for schizophrenia

[0058] The genomic DNA that has passed the quality inspection is digested, the DNA is amplified and labeled, the amplified product is fragmented, the fragmented DNA is hybridized with the Axiom Genome-Wide CHB1&2 array plate, the chip is cleaned after the reaction, stained and scanned, and the optical signal value is calculated. Convert it into a digital signal, and judge the typing result (A, T, G, C) of each SNP site according to the value of the digital signal.

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Abstract

The invention provides a single nucleotide polymorphism site related to schizophrenia and application thereof. In particular, the schizophrenia related single nucleotide polymorphism site relates to the use of an SNP site in the preparation of a detection reagent for predicting the risk of schizophrenia in a subject, wherein the SNP site is selected from one or a combination of chr2_200825237_I, rs129573, rs211829, rs4523957, rs7267348, chr22_39987017_D, rs12325245, rs215411. These SNP sites are suitable for early schizophrenia risk screening in subspecies populations, particularly in Chinesepopulations.

Description

technical field [0001] The invention relates to the technical field of biomedicine, in particular, the invention relates to a single nucleotide polymorphism site related to schizophrenia and its application. Background technique [0002] The heritability of schizophrenia is as high as 80%, and it is a typical polygenic complex disease. In the past 30 years, one of the main directions of research on the molecular mechanism of schizophrenia at home and abroad is to find its pathogenic gene, and hope to use it as a biomarker of the disease. So far, 1008 schizophrenia susceptibility genes and more than 30 chromosomal susceptibility regions have been reported. However, due to the high heterogeneity of schizophrenia, the selectivity of samples used in different research institutes, etc., the reproducibility of some susceptibility loci in different populations is poor, and it cannot be used as a basis for diagnosis. [0003] The emergence of genome-wide association studies (GWAS)...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883
Inventor 许琪韦晖胡慧灵
Owner THE INST OF BASIC MEDICAL SCI OF CHINESE ACAD OF MEDICAL SCI
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