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A genetic testing product for hereditary deafness

A technology for hereditary deafness and genetic detection, applied in the field of biomedicine, can solve the problems of high cost, inability to detect, and time-consuming

Active Publication Date: 2020-11-24
BEIJING CAPITALBIO MEDLAB CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] In recent years, genetic diagnostic kits and detection methods for congenital deafness genes or susceptibility deafness genes have been reported successively in China. At present, the methods for monitoring deafness gene DNA are mainly based on chip technology, sequencing technology and fluorescence detection technology. Time-consuming, high cost, unable to detect multiple mutation sites of different genes at the same time

Method used

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  • A genetic testing product for hereditary deafness
  • A genetic testing product for hereditary deafness
  • A genetic testing product for hereditary deafness

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0072] The verification of embodiment 1 detection method

[0073] 1. Determination of polymorphic sites

[0074] The polymorphic sites selected by the present invention all have high polymorphic information content, including the hotspot mutation sites of the deafness gene in the Chinese population, which greatly improves the haplotype diversity as a whole. Through large-scale sequencing screening, as well as the polymorphism survey and literature research of the deafness-causing genes reported in the prior art in the Chinese population, the 20 sites selected in the present invention are shown in Table 1, and the 22 sites are shown in Table 1. 2.

[0075] Table 1 All 20 polymorphic sites involved in the present invention

[0076] serial number Site information 1 SLC26A4c.1226G>A 2 SLC26A4c.1174A>T 3 SLC26A4c.1229C>T 4 SLC26A4c.1975G>C 5 SLC26A4c.2027T>A 6 GJB2c.235delC 7 GJB2c.299_300delAT 8 GJB2c.176_191del16 9 ...

Embodiment 2

[0131] Embodiment 2 carries out large sample verification to the selected SNP locus

[0132] 1. Collection of samples

[0133] According to the method in Example 1, 50 samples of hereditary deafness patients were collected, and the collection and application of the samples all obtained the informed consent of the patients.

[0134] 2. Sample detection

[0135] Using the method adopted in step 3 in Example 1, 20 sites listed in Table 1 and 20 SNP sites 235delC, 176_191del, 299_300delAT, 35delG, 167delT, 547G>A, 538C>T reported in the literature , 1229C>T, 1174A>T, 1226G>A, IVS15+5G>A, 2027T>A, 1975G>C, 589G>A, 2162C>T, 281C>T, IVS7-2A>G, 2168A>G, 1555A >G and 1494C>T for site detection.

[0136] 3. Results

[0137] The detection results of 20 different SNP sites showed that there were 39 deaf patients who detected the SNP sites listed in Table 1, and the comprehensive detection rate was 78%; the 20 SNP sites reported in the comparative literature were detected There are 35...

Embodiment 3

[0138] Embodiment 3 A kind of hereditary deafness gene detection kit

[0139] According to the correlation between SNP sites and hereditary deafness, the present invention provides a kit for diagnosing deafness based on the genotype of SNP sites. The components of the kit include multiplex PCR reaction system, SAP enzyme treatment system, single alkali Base extension reaction system, DNA extraction reagent, negative quality control, positive quality control, purification resin, mass spectrometry detection chip, instruction manual or label. Multiplex PCR system includes PCR amplification primers, PCR buffer, 25mM dNTPs, 25mM MgCl 2 , 5U / μl PCR enzyme, PCR amplification primer sequence as shown in SEQ ID NO.1-22; SAP enzyme treatment system includes SAP buffer, SAP enzyme; single base extension reaction system includes single base extension primer, iPLEX buffer , iPLEX termination mixture, iPLEX enzyme, single base extension primer sequence as shown in SEQ ID NO.27-46; DNA extr...

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Abstract

The invention discloses a gene detection product for genetic deafness, and particularly relates to a reagent kit for detecting multiple deafness genes at the same time. The reagent kit uses multiple PCR amplification primers and single base extension primers to simultaneously detect multiple hotspot mutations in the same tube, and has the advantages of quick diagnosis, easy operation and low cost. The invention also discloses a method for combining multiple PCR- single base extension-mass spectrum, and the method can be used to detect the genotype of the deafness gene accurately, sensitively and in high throughput, thereby being helpful for the popularization of deafness gene screening.

Description

technical field [0001] The invention belongs to the field of biomedicine and relates to a genetic detection product for hereditary deafness. Background technique [0002] Deafness and auditory dysfunction are one of the most common sensory dysfunctions in human beings, ranking first among all kinds of disabled people. It seriously affects the communication of patients and has a significant impact on patients' daily life. In recent years, the incidence of deafness in my country has increased significantly. There are about 30,000 newborn deaf children nationwide every year, and the incidence of deafness in newborns is 3‰. The etiology of deafness is complex and diverse, involving many factors such as heredity, infection, trauma, improper drug application, immune disease, physiological function degeneration, noise, chemical substance poisoning and psychological factors, among which 60% of deafness is caused by genetic factors, It is divided into two categories: syndromic deafn...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/6858
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/16C12Q2537/143C12Q2547/101C12Q2535/125C12Q2565/627
Inventor 王力刚王景
Owner BEIJING CAPITALBIO MEDLAB CO LTD
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