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Glaucoma screening kit

A kit, glaucoma technology, applied in the field of SNP

Active Publication Date: 2014-11-26
SICHUAN ACADEMY OF MEDICAL SCI SICHUAN PROVINCIAL PEOPLES HOSPITAL +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, mutations in these five genes can only explain 5%-6% of the incidence of primary open-angle glaucoma, and the incidence of most patients remains unexplained

Method used

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Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0056] Example 1 Sample Collection and Genomic DNA Extraction

[0057]The primary open-angle glaucoma included in the study of the present invention includes high intraocular tension glaucoma (HTG) and normal intraocular tension glaucoma (NPG). The discovery phase of the genome-wide association analysis (GWAS), the validation phase 1 and the validation phase 2 were all used for ocular hypertension glaucoma (HTG). The discovery phase included 1007 sporadic ocular hypertension glaucoma patients and 1009 normal controls. All samples were collected from Shanghai, Hong Kong, and Chengdu, respectively in the Eye, Ear, Nose and Throat Hospital Affiliated to Fudan University, the Hong Kong Eye Hospital of the Chinese University of Hong Kong, and the Sichuan Provincial People's Hospital. The first stage of validation included 525 patients with ocular hypertension glaucoma and 912 normal controls. The samples were taken from the Singapore National Eye Center, Singapore Eye Research Ins...

Embodiment 2

[0059] Embodiment 2 Genotype analysis of SNP of the present invention

[0060] The present invention uses the Snapshot genotyping technology to detect the following 31 SNP sites located on the ATP-binding cassette, sub-family A (ABC1), member1, ABCA1) gene. Gene amplification reagents and Snapshot primers were used for typing according to the following methods. SNaPshot is also called micro-sequencing method. This technology, developed by Applied Biotechnology (ABI), is a typing technology based on the principle of fluorescently labeled single base extension, and is mainly aimed at medium-throughput SNP typing projects. In a reaction system containing sequencing enzymes, four fluorescently labeled ddNTPs, different length extension primers close to the 5' end of the polymorphic site, and PCR product templates, the primers are terminated after one base extension, and after electrophoresis on the ABI sequencer, According to the color of the peak, the type of base incorporated ...

Embodiment 3

[0232] The genotype analysis of embodiment 3 SNP of the present invention

[0233] Except the Snapshot detection method that embodiment 2 enumerates, 31 SNPs of the present invention can also adopt following detection method to detect:

[0234] SNP detection methods include:

[0235] 1. DNA sequencing technology:

[0236] 1. The dideoxynucleotide chain termination method (traditional Sanger sequencing) is based on the fact that the nucleotide starts at a fixed point and terminates at a specific base at random, and fluorescent labels are carried out after each base. Produce a series of four groups of nucleotides of different lengths ending with A, T, C, G, and then detect by electrophoresis on urea-denatured PAGE gel, so as to obtain the visible DNA base sequence. Basic process: 1), DNA template extraction and quality inspection; 2), sequence alignment, primer design and synthesis; 3), PCR amplification, including preparation of denatured double-stranded templates, extension ...

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Abstract

The invention discloses a use of reagents for detecting 31 SNP loci on an ABCA1 gene in preparation of a reagent for detecting glaucoma, and also discloses a glaucoma detection kit. The kit can be used for auxiliary diagnosis of glaucoma, and can also be used for evaluating resistance and susceptibility to individual glaucoma disease.

Description

technical field [0001] The invention relates to the field of SNPs, in particular to SNPs related to glaucoma. Background technique [0002] Glaucoma, the leading cause of blindness worldwide, is characterized by the death of retinal ganglion cells. Primary open-angle glaucoma (POAG, MIM137760) is the predominant type of primary glaucoma in most populations. POAG can be divided into high tension glaucoma (HTG) and normal tension glaucoma (NPG). POAG can be caused by a single gene mutation, which conforms to Mendelian inheritance; however, most POAG is sporadic, caused by genetic variation of multiple genes and environmental factors. Five genes have been identified so far—MYOC (encoding myofibrin), OPTN (encoding optic neurin), WDR36 (encoding WD repeat domain), TBK1 (TANK-binding kinase 1), and ASB10 (encoding ankyrin coincident and SOCS box genes 10) POAG that can cause monogenic inheritance. However, mutations in these five genes can only explain 5%-6% of the incidence ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 杨正林孙兴怀林婴陈宇虹
Owner SICHUAN ACADEMY OF MEDICAL SCI SICHUAN PROVINCIAL PEOPLES HOSPITAL
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