Unlock instant, AI-driven research and patent intelligence for your innovation.

An amplification primer, kit and application for detecting mutations in genes causing familial retinitis pigmentosa

A technology for retinal pigment and amplification primers, which is applied in the field of amplification primers for detection of mutations in genes causing familial retinitis pigmentosa. problem, to achieve good auxiliary diagnosis value, improve timeliness, and wide coverage

Active Publication Date: 2020-06-02
THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIV
View PDF2 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] At present, only through clinical symptoms, biochemical and pathological tests, it is impossible to identify which one or several genetic abnormalities are caused
Early genetic diagnosis uses the method of linkage analysis to lock the location of the disease-causing gene on the genome, but this method requires a large patient family
In view of the large number of RP pathogenic genes and high genetic heterogeneity, the throughput of next-generation sequencing technology is too low, time-consuming and labor-intensive, and cannot meet the needs of sequencing of many genes and detection of multiple samples

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • An amplification primer, kit and application for detecting mutations in genes causing familial retinitis pigmentosa
  • An amplification primer, kit and application for detecting mutations in genes causing familial retinitis pigmentosa
  • An amplification primer, kit and application for detecting mutations in genes causing familial retinitis pigmentosa

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0042] Preferred embodiments of the present invention will be described in more detail below with reference to the accompanying drawings.

[0043] Reagents used:

[0044] Ion Ampliseq Library kit 2.0, Ion PGM Template OT2 200 kit v3, Ion PGM Sequencing 200 kit v2, Ion xpress Barcorde Adaptor33-48 kit, Ion 316 chip kit v2 BC.

[0045] 1. Extract the whole genome DNA of the sample to be tested

[0046] Using OMEGA "Genomic DNA Extraction Kit" to extract peripheral blood DNA. The total volume of extracted DNA is about 100μl, the concentration is 20-100ng / μl; A260 / 280 is between 1.8-2.0. use 2.0 Fluorescence Quantitative Instrument for accurate quantification of genomic DNA.

[0047] 2. PCR amplification of the target region of genomic DNA

[0048] The amount of DNA required for the amplification reaction of each primer set (primer pool 1 and primer pool 2) was 10 ng (2 primer sets in total). The concentration of primers in each primer pool was 400 nM.

[0049]

[0050]...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention relates to the technical field of medical molecular biological detection and specifically relates to an amplification primer for detecting familial retinitis pigmentosa virulence gene mutation, a kit and an application. The amplification primer comprises two primer pools, namely, a primer pool 1 and a primer pool 2; the primer pool 1 comprises nucleotide sequences shown as sequence tables SEQ ID NO: 1 to SEQ ID NO: 200; the primer pool 2 comprises nucleotide sequences shown as sequence tables SEQ ID NO: 201 to SEQ ID NO: 400. The DNA amplification primer and the kit provided by the invention have the characteristics of accuracy, flexibility, high speed and low cost. A clinical assessment shows that the amplification primer and the kit have higher auxiliary diagnosis value for the familial retinitis pigmentosa.

Description

technical field [0001] The invention relates to the technical field of medical molecular biology detection, in particular to an amplification primer, a kit and an application for detecting mutations in genes causing familial retinitis pigmentosa. Background technique [0002] Retinitis pigmentosa (RP) is a type of progressive retinal degeneration caused by degeneration of retinal photoreceptors and retinal pigment epithelium. It is clinically characterized by night blindness, progressive visual field reduction and vision loss, retinal pigmentation, and waxy-yellow optic disc. Hereditary blinding eye disease characterized by atrophy and abnormal electroretinogram. Epidemiological surveys show that there are as many as 400,000 RP patients in my country, and the population prevalence rate is about 1:3500-1:5000. Retinitis pigmentosa is the leading cause of blindness in children and adolescents and is the most common genetic ophthalmic disease. The disease is highly geneticall...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/16C12Q1/6858C12Q2535/122C12Q2537/143
Inventor 梅世月孔祥东白楠刘莉娜
Owner THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIV