Detection method and detection kit for hereditary deafness genes

A technology for hereditary deafness and detection methods, applied in the field of detection methods and detection kits for hereditary deafness genes, can solve the lack of accurate, high-throughput gene mutation screening technology, hindering the research and development of precision treatment drugs and clinical research, etc. problems, to achieve the effect of delaying, preventing or deafness

Inactive Publication Date: 2018-12-11
为康(苏州)基因科技有限公司
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Problems solved by technology

[0003] The lack of accurate and high-throughput gene mutation screening technology hinders the development and clinical research of precision medicine

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  • Detection method and detection kit for hereditary deafness genes
  • Detection method and detection kit for hereditary deafness genes
  • Detection method and detection kit for hereditary deafness genes

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Embodiment Construction

[0018] The following will clearly and completely describe the technical solutions in the embodiments of the present invention with reference to the accompanying drawings in the embodiments of the present invention. Obviously, the described embodiments are only some of the embodiments of the present invention, not all of them. Based on the embodiments of the present invention, all other embodiments obtained by persons of ordinary skill in the art without making creative efforts belong to the protection scope of the present invention.

[0019] It should be noted that when a component is said to be "fixed" to another component, it can be directly on the other component or there can also be an intervening component. When a component is said to be "connected" to another component, it may be directly connected to the other component or there may be intervening components at the same time. When a component is said to be "set on" another component, it may be set directly on the other ...

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Abstract

The invention discloses a detection method for hereditary deafness genes. The detection method comprises the steps that a sample DNA is extracted; specific primers used for amplifying hereditary deafness gene segments are designed; single-tube multi-PCR amplification reaction is carried out so as to obtain target fragments; single-base extension primers for the hereditary deafness gene fragments are designed; single base extension is carried out on the hereditary deafness gene fragments; and nucleic acid mass spectrometry analysis is carried out so as to measure the target DNA sequences. The detection method has the advantages that the hereditary deafness genes can be effectively screened, the individual can be helped to fully understand the hereditary condition of the individual, corresponding health management measures are taken in advance, and the occurrence of deafness can be effectively prevented or delayed. The invention further relates to a detection kit for the hereditary deafness genes.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular to a detection method and a detection kit for hereditary deafness genes. Background technique [0002] 60% of deafness is related to genetic factors, and 70% of them are non-syndromic deafness. Autosomal genes have two alleles, one from the father and one from the mother, and one of the allele mutations is called "(single) heterozygous mutation"; two allele mutations are called "compound heterozygous mutation" or "Homozygous mutation". Unlike the linear structure of autosomal genes, mitochondrial genes have a circular structure, so the expression method of mitochondrial gene mutations is also different. It is often expressed as "homogeneous mutation" or "heterogeneous mutation". The former can be understood as homozygous mutation, and the latter can be understood as a single heterozygous mutation. Gene base deletion (indicated by Del, that is, delete) or substitution (indicated by ">...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6858C12Q1/6883
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/16C12Q2531/113C12Q2537/143C12Q2533/101
Inventor 王文忠张为田军龙胡军陈苏平
Owner 为康(苏州)基因科技有限公司
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