SNaPshot kit for detecting deafness gene polymorphisms on 10 loci

A deafness gene and kit technology, applied in the field of genetic disease and molecular biology diagnosis, can solve the problems of non-specific amplification, base misreading, etc., achieve the effect of preventing speech barriers and reducing the incidence of deafness

Inactive Publication Date: 2017-08-22
GUANGZHOU KINGMED DIAGNOSTICS CENT
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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 Sn...

Method used

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  • SNaPshot kit for detecting deafness gene polymorphisms on 10 loci
  • SNaPshot kit for detecting deafness gene polymorphisms on 10 loci
  • SNaPshot kit for detecting deafness gene polymorphisms on 10 loci

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0077] Example 1 Detection Process

[0078] 1. The specific implementation process of testing

[0079] 1.1 DNA extraction

[0080] DNA is provided with collected samples of human blood. For details, please refer to the company's "Standard Operating Procedures for Extraction of Blood Genomic DNA". The concentration of extracted DNA is calculated and diluted to 5-10μg / mL.

[0081] 1.2 Reagent preparation

[0082] e) Configure twice the Master Mix, which includes dNTP, MgCl 2 、Hot-start ultra-fidelity DNA polymerase and buffer, after melting at room temperature, centrifuge briefly; prepare appropriate number of PCR reaction tubes.

[0083] f) Preparation of primer mixture: the ratio of each primer is 1:1, shake and mix well; centrifuge briefly and set aside.

[0084] g) Reaction system preparation

[0085]

[0086]

[0087] d) Shake and mix well. After a short centrifugation, aliquot 23μL into the labeled PCR reaction tube. Transfer to the specimen preparation area.

[0088] 1.3 Dosing

[0089...

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Abstract

The invention provides an SNaPshot kit for detecting multiple deafness gene polymorphisms, and the loci of the detected deafness gene polymorphisms comprise GJB2 gene loci rs80338943, rs111033204 and 508_511dupAACG; SLC26A4 gene loci rs111033318, rs121908362, rs121908363, rs200455203, rs111033380 and rs111033313; and mitochondrial DNA rs267606617.

Description

Technical field [0001] The invention relates to the field of molecular biology diagnosis and the field of genetic diseases. Specifically, the present invention provides a SNaPshot kit for detecting polymorphisms of multiple deafness genes. Background technique [0002] Congenital deafness is one of the most common birth defects and the most common human sensory system disease, with an incidence rate of 0.1%-0.3%. 60% of deafness is related to genetic factors. Among these genetic factors, they mainly include GJB2, SLC26A4, GJB3 genes and mitochondrial DNAm.1555A> G and m.1494C> T site. In Chinese neonatal deafness gene mutation screening, the GJB2 gene mutation has a high carrier rate, about 2.6%, the SLC26A4 gene mutation carrier rate is about 1.9%, and the neonatal mitochondrial DNA m.1555A> Homogeneous G mutations accounted for 0.1%, and GJB3 gene mutations were only found in a few patients. [0003] The Cx26 encoded by the GJB2 gene is expressed in the cochlea, locat...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
Inventor 赵薇薇胡昌明徐艳艳陈白雪贺书香刘晶星于世辉
Owner GUANGZHOU KINGMED DIAGNOSTICS CENT
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