SNaPshot kit for detecting polymorphism of deafness genes of 22 sites

A deafness gene and kit technology, applied in the fields of genetic disease and molecular biology diagnosis, can solve problems such as non-specific amplification and base misreading, and achieve the effect of preventing speech disorders and reducing the incidence of deaf-muteness.

Active Publication Date: 2017-09-22
深圳金域医学检验实验室
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AI Technical Summary

Problems solved by technology

What is more complicated than the general PCR method is that there are many factors to be considered in the design of Snapshot detection system, especially the multiplex Snapshot detection system: primer length, Tm value, tail structure selection, and the ratio of template to primer may cause non-specific amplification and Subsequent base miscalls

Method used

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  • SNaPshot kit for detecting polymorphism of deafness genes of 22 sites
  • SNaPshot kit for detecting polymorphism of deafness genes of 22 sites
  • SNaPshot kit for detecting polymorphism of deafness genes of 22 sites

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Experimental program
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Embodiment 1

[0044] Embodiment 1 detection process

[0045] 1. The specific implementation process of the test

[0046] 1.1 DNA extraction

[0047] Human blood samples are used to provide DNA. For details, refer to the company's "Standard Operating Procedures for Genomic DNA Extraction from Blood". Calculate the concentration of the extracted DNA and dilute it to 5-10 μg / mL.

[0048] 1.2 Reagent preparation

[0049]a) Configure twice the Master Mix, which includes dNTP, MgCl 2 , Hot-start ultra-fidelity DNA polymerase, buffer, after melting at room temperature, briefly centrifuge; prepare an appropriate number of PCR reaction tubes.

[0050] b) Prepare the primer mixture: the ratio of each primer is = 1:1, shake and mix well; centrifuge briefly and set aside.

[0051] c) Reaction system preparation

[0052]

[0053] d) Shake and mix well, and after brief centrifugation, dispense 23 μL into labeled PCR reaction tubes. Transfer to specimen preparation area.

[0054] 1.3 Adding samp...

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Abstract

The invention provides a SNaPshot kit for detecting polymorphism of deafness genes of 22 sites. Polymorphism sites of detected deafness genes comprise GJB2 gene sites rs80338939, rs80338942, rs80338943, rs111033204, 176_191del16, c.35dupG and 508_511dupAACG; GJB3 genes rs74315318 and rs74315319; SLC26A4 genes rs111033220, rs201562855, rs111033305, rs192366176, rs111033318, rs121908362, rs121908363, rs200455203, rs111033380, rs111033313 and c.281C greater than T; mitochondrion DNA (Deoxyribonucleic Acid) rs267606619 and rs267606617.

Description

technical field [0001] The invention relates to the fields of molecular biology diagnosis and genetic disease. Specifically, the present invention provides a SNaPshot kit for detecting multiple deafness gene polymorphisms. Background technique [0002] Congenital deafness is one of the most common birth defects and the most common human sensory system disorder, with an incidence of 0.1%-0.3%. 60% of deafness is related to genetic factors. Among these genetic factors, GJB2, SLC26A4, GJB3 genes and mitochondrial DNA m.1555A>G and m.1494C>T sites were mainly included. In the screening of newborn deafness gene mutations in China, the GJB2 gene mutation has a high carrier rate of about 2.6%, the SLC26A4 gene mutation carrier rate is about 1.9%, and the mitochondrial DNA m.1555A>G homogeneous mutation of newborns accounts for 0.1%. , GJB3 gene mutations are only found in a small number of patients. [0003] Cx26 encoded by the GJB2 gene is expressed in the cochlea, lo...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/16C12Q2565/125C12Q2537/143
Inventor 赵薇薇胡昌明徐艳艳陈白雪贺书香刘晶星于世辉
Owner 深圳金域医学检验实验室
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