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Method and kit for detecting hereditary hearing loss gene mutation sites

A kind of hereditary deafness, kit technology, applied in biochemical equipment and methods, microbial determination/examination, DNA/RNA fragments, etc., can solve the problem of lack of rapid detection of hereditary deafness

Active Publication Date: 2018-10-19
DAAN GENE CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, at present, there is still a lack of effective and rapid methods for the detection of hereditary deafness in clinical practice.

Method used

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  • Method and kit for detecting hereditary hearing loss gene mutation sites
  • Method and kit for detecting hereditary hearing loss gene mutation sites
  • Method and kit for detecting hereditary hearing loss gene mutation sites

Examples

Experimental program
Comparison scheme
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Embodiment 1

[0117] Example 1 Detection of hereditary deafness gene point mutation

[0118] (1) Sample PCR amplification

[0119] The primers of the present invention suitable for liquid chip detection of point mutations in seventeen hereditary deafness genes were designed and synthesized. The primer sequences are shown in Table 1. The genomic DNA of the sample was extracted, and for the detected mutation site, the fragment containing the mutation site was first amplified by PCR, and multiple asymmetric PCR was used in two centrifuge tubes (A tube and B tube, where A tube The tube uses the first primer pair set, tube B uses the second primer pair set) to amplify all the 17 mutation sites detected by the probe of the present invention as listed in Table 1. The total PCR reaction system is 50ul, mainly including 0.4ul 0.5M MgCl2, 1.8ul volume of 16.7mM dNTPs, 12U TaqHS produced by Daan Gene, 1M Tris-HCl (pH8.8) and 15ul sample genomic DNA (blank control Replace the sample genomic DNA with ...

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Abstract

The invention provides a method and kit for detecting hereditary hearing loss gene mutation sites, and concretely provides a group of primer groups capable of being used for effectively amplifying a plurality of hereditary hearing loss gene mutation sites; the corresponding detection probes are designed. The experiment results show that the primer pair group has ultrahigh amplification efficiencyand good specificity; the multiplex detection can be performed on a plurality of sites, so that by the primer pair group and the probe group, the detection efficiency is greatly improved; the detection cost is obviously reduced.

Description

technical field [0001] The invention belongs to the field of molecular diagnosis, in particular, the invention relates to a method and a kit for detecting mutation sites of hereditary deafness genes. Background technique [0002] Genetic testing can enable people to understand their own genetic information, clarify the cause of disease or predict the risk of a certain disease in the body, that is, it can diagnose the disease, and can also be used to predict the risk of the disease. Disease diagnosis is the detection of mutated genes that cause hereditary diseases using genetic testing technology. The most widely used genetic testing is the detection of newborn genetic diseases, the diagnosis of genetic diseases and the auxiliary diagnosis of some common diseases. [0003] Gene mutation detection can be used for early screening, diagnosis and prognosis of various diseases. A variety of malignant tumors, such as malignant melanoma, thyroid cancer, colorectal cancer, lung can...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/16C12Q2537/143C12Q2531/107
Inventor 蒋析文黄桃生林卫萍
Owner DAAN GENE CO LTD