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Early screening method and kit for Graves' disease (GD) susceptibility genes

A technology for goiter and susceptibility genes, which is applied in the directions of biochemical equipment and methods, determination/examination of microorganisms, DNA/RNA fragments, etc.

Pending Publication Date: 2021-04-02
广东南芯医疗科技有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

At present, there is no very effective early detection method in clinical practice, so it is urgent to establish a highly sensitive, economical and simple molecular technology screening method to fill the gap in China

Method used

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  • Early screening method and kit for Graves' disease (GD) susceptibility genes
  • Early screening method and kit for Graves' disease (GD) susceptibility genes
  • Early screening method and kit for Graves' disease (GD) susceptibility genes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0108] Feasibility Analysis of SNP Site Screening of Human Diffuse Toxic Goiter Susceptibility Genes

[0109] The inventors screened and evaluated the loci related to the occurrence of diffuse toxic goiter, which were verified by the genome-wide association study (GWAS) of NCBI at home and abroad in large-scale pathological control group clinical studies , selected 17 single nucleotide polymorphism sites that are significantly associated with the risk of diffuse toxic goiter in the Chinese population, and are independent of each other, there is no linkage disequilibrium, so the site selection of the present invention is representative and independent It can be used to assess the risk of diffuse toxic goiter in individuals.

[0110] The screened SNP sites are as follows:

[0111] rs2294025、rs7005834、rs2941522、rs907091、rs1453559、rs12150079、rs2872507、rs3087243、rs231775、rs229527、rs2284038、rs4969170、rs12101261、rs179243、rs40401、rs2069812、rs2227306。

Embodiment 2

[0112] Embodiment 2 system verification

[0113] System validation includes accuracy, specificity, sensitivity, precision, and comparison among personnel.

[0114] Accuracy verification scheme: 20 cases were detected at each site, compared with Sanger sequencing, the expected target was 95%.

[0115] Specificity Validation Protocol: Included in Accuracy, expected target 95%.

[0116] Sensitive verification scheme: using human genomic DNA positive samples as templates, the DNA contents of calibration samples were 1ng / μL, 5ng / μL, 10ng / μL, 50ng / μL, and 100ng / μL for sensitivity inspection.

[0117] The precision verification plan (including intra-batch, inter-batch, and personnel comparisons, not involving inter-instrument comparisons) has an expected target of 95%.

[0118] Intra-assay precision: The same batch of each sample was repeated 3 times to compare the intra-assay precision.

[0119] Inter-batch precision: The same operator tests the same sample in multiple batches to...

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Abstract

The invention provides an early screening method and kit for Graves' disease (GD) susceptibility genes. Particularly, a combination of SNPsites of genes related to GD susceptibility of Chinese peopleis screened by considering the difference of gene profiles of Chinese people and European and American people, a nucleic acid mass spectrometer is used for widely screening and inspecting genetic markers (high-throughput detection sites and high-throughput detection samples) related to GD. The method is high in detection success rate, good in technical reproducibility and high in cost performance,can realize detection of multiple genes of a single small sample, and meets maximized use of the small sample; and the method has the technical advantages of high accuracy and high sensitivity, the detection result is stable, and the detection positive rate is improved.

Description

technical field [0001] The invention belongs to the field of biotechnology, in particular, the invention relates to an early screening method and kit for diffuse toxic goiter susceptibility genes. Background technique [0002] Diffuse toxic goiter (diffuse toxic goiter, or GD for short) is an autoimmune disease that primarily affects the thyroid gland. It is the most common cause of hyperthyroidism and occurs in all age groups, especially in women of childbearing age. A large amount of epidemiological evidence shows that genetic factors play an important role in the pathogenesis of GD. [0003] Single nucleotide polymorphism (single nucleotide polymorphism, SNPs) is a kind of genetic marker, which refers to the polymorphism of DNA sequence caused by single nucleotide variation at the genome level. The frequency of occurrence in the population is greater than 1%, including single-base conversions, inversions, and single-base insertions or deletions. It is a new genetic mark...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156Y02A50/30
Inventor 陈涛张静袁昕昕林金飞
Owner 广东南芯医疗科技有限公司
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