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Non-syndromic deafness gene detection membrane strip and PCR (polymerase chain reaction) primer

A gene detection and syndrome technology, applied in the determination/testing of microorganisms, biochemical equipment and methods, DNA/RNA fragments, etc., can solve the problem of inapplicable clinical large-scale promotion, expensive equipment and consumables, Expensive and other issues, to achieve the effect of strong clinical guidance, high accuracy, and high accuracy rate

Pending Publication Date: 2016-06-22
东莞市儿科研究所 +1
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] At present, traditional gene diagnosis methods include enzyme digestion, restriction fragment length polymorphism analysis (restriction fragment length polymorphism, RFLP), direct sequencing, etc. These methods are either not qualitative, or time-consuming and labor-intensive, expensive equipment and consumables, and more importantly, These methods are difficult to detect multiple mutation sites of different genes at the same time
Although the gene chip method can detect different gene loci at the same time, it requires expensive equipment and consumables, and is not suitable for large-scale clinical promotion, and its application is limited.

Method used

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  • Non-syndromic deafness gene detection membrane strip and PCR (polymerase chain reaction) primer
  • Non-syndromic deafness gene detection membrane strip and PCR (polymerase chain reaction) primer
  • Non-syndromic deafness gene detection membrane strip and PCR (polymerase chain reaction) primer

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Embodiment Construction

[0092] For the convenience of those skilled in the art to understand, below in conjunction with embodiment and appended Figure 1-8 To further illustrate the present invention, the content mentioned in the embodiment is not to limit the present invention.

[0093] A gene detection film strip for non-syndromic deafness, including a substrate and a normal control probe and a specific mutation detection probe fixed on the substrate, including a total of 20 mutations for detecting 20 gene mutation sites Detection probe and 10 normal control probes, the 20 gene mutation sites are 35delG, 167delT, 176-191del16, 235delC, 299-300delAT, 538C>T, 547G>A, 1555A>G, 1494C>T , 281C>T, 589G>A, IVS7-2A>G, 1174A>T, 1226G>A, 1229C>T, IVS15+5G>A, 1975G>C, 2027T>A, 2162C>T and 2168A>G.

[0094] The gene detection film strip of the present invention can detect 20 gene mutation sites, a total of 20 types of mutations, and the gene detection film strip can be used for detection, which can directly c...

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Abstract

The invention relates to a hybridized membrane strip capable of being used for medically diagnosing genetic non-syndromic deafness of people, in particular to a non-syndromic deafness gene detection membrane strip and a PCR (polymerase chain reaction) primer used for amplifying gene segments of a to-be-detected sample. The gene detection membrane strip comprises a substrate as well as normal contrast probes and specific mutation detection probes which are fixed on the substrate and totally comprises 20 mutation detection probes for detecting 20 gene mutation sites and 10 normal contrast probes. The gene detection membrane strip can detect 20 gene mutation sites in 20 mutation types, is used for detection, can directly diagnose the gene types of a to-be-detected person and has the advantages of being high in accuracy, high in specificity, capable of detecting a recessive gene carrier and the like.

Description

technical field [0001] The invention relates to a hybrid membrane strip which can be used for medically diagnosing human hereditary non-syndromic deafness, in particular to a non-syndromic deafness gene detection membrane strip and PCR primers for amplifying gene fragments of samples to be tested. Background technique [0002] Deafness is one of the most common human sensory system defects. Due to its complex etiology, high incidence and difficult treatment, it has long plagued patients and their surrounding groups, greatly affecting mutual communication and quality of life. The incidence of severe deafness in newborns is as high as 1 / 800~1 / 1000, and nearly 70 million people around the world suffer from hearing loss of more than 55 decibels. [0003] There are many causes of deafness, and more than 60% of newborns with deafness are caused by genetic factors. Deafness can be caused by mutations in a single gene or by compound mutations in different genes. It can also be cau...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11C12N15/10
CPCC12Q1/6806C12Q1/6813C12Q1/686C12Q1/6883C12Q2600/156C12Q2600/16C12Q2563/131
Inventor 陆小梅黎四平彭琪李文瑞马强何晓光马可泽廖生赟
Owner 东莞市儿科研究所
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