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Kit for detecting hereditary deafness susceptibility gene mutation

A hereditary deafness and detection kit technology, applied in the biological field, can solve problems such as poor practicality and complicated operation

Active Publication Date: 2015-06-10
江苏佰龄全基因生物医学技术有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0012] The technical problem to be solved by the present invention is to provide a detection kit based on multiple ligation probe amplification technology to detect the mutation of hereditary deafness susceptibility genes, so as to overcome the fact that the existing kits only target a single or a small number of mutation sites. Detect and operate complex defects with poor practicability

Method used

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  • Kit for detecting hereditary deafness susceptibility gene mutation
  • Kit for detecting hereditary deafness susceptibility gene mutation
  • Kit for detecting hereditary deafness susceptibility gene mutation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0067] Example 1: Negative sample detection

[0068] For the experimental methods without specific conditions indicated in the following examples, conventional conditions are usually followed, such as the molecular cloning operation manual, or the conditions suggested by the manufacturer. All inorganic chemical reagents and organic solvents were purchased from Sinopharm Reagent Co., Ltd., blood DNA extraction kit was purchased from Beijing Quanshijin Biotechnology Co., Ltd., T4DNALigase-E was purchased from New England Biotechnology Co., Ltd., and TransStart TopTaq hot start enzyme was purchased from Beijing Quanshijin Biotechnology Co., Ltd., primers and probes were synthesized by Shanghai Jierui Company. Eppendorf Gradient PCR Amplifier was purchased from Eppendorf, Germany. (1) DNA extraction: Peripheral blood was collected with the consent of the subject or the knowledge of his guardian. The commercially available full-type gold blood DNA extraction kit was used to extra...

Embodiment 2

[0079] Example 2: Blind detection with positive template

[0080] (1) DNA extraction: The artificially synthesized positive DNA containing the mutation point of the detection gene is used as the detection sample.

[0081] (2) Hybridization reaction: According to the amplified bands from small to large, the gene mutation points were marked as 1-16, and random software was used to extract 10 groups of numbers for blind detection.

[0082] Table 3 randomly selected data

[0083]

[0084] (3) According to the extraction number, a positive DNA sample containing a single mutation point corresponding to the extraction number is added to the hybridization reaction system. Add the following components into a 200μl PCR tube, mix well, and react at 65°C for 16h;

[0085] components volume DNA template (10μmol / L) 2μl Each probe (10μmol / L) 0.8μl 1× hybridization solution 7.5μl wxya 2 o Make up to 40μl

[0086] (4) Ligation reaction: add th...

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Abstract

The invention relates to a multiplex ligation-dependent probe amplification kit for detecting hereditary deafness susceptibility gene mutation. The multiplex ligation-dependent probe amplification kit comprises a detection probe for detecting mutation site specificity, a universal primer, a positive DNA template, a DNA ligase, a connection buffer solution, a hybridization solution and a PCR reaction reagent, wherein the detection probe is composed of a pair of short probe and long probe and corresponds to one mutation site. The method is high in sensitivity and is accurate in result, and compared with the traditional detection technology, the kit can be used for completing high-throughput screening of multiple key hereditary deafness gene mutation diagnosis at one time, and has the advantages of high economical efficiency, high efficiency and high accuracy.

Description

technical field [0001] The invention belongs to the field of biological technology, and in particular relates to a multiple connection probe amplification detection kit for detecting mutations of hereditary deafness susceptibility genes. Background technique [0002] Deafness is one of the most common genetic diseases clinically, and it is also a common disease affecting human health. According to statistics, there are 27.8 million people with hearing and speech disabilities in China, accounting for 34% of the total number of disabled people in the country. There are 1 to 3 cases of deaf children, and there are about 740,000 deaf children under the age of 7, and it is increasing at a rate of 20,000 to 30,000 per year. About 60% of newborn deafness is caused by genetic factors. In addition, in a large number of patients with delayed hearing loss, many patients are caused by their own gene defects, or genetic deafness caused by gene defects and polymorphisms are susceptible ...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 华琴潘海波邢楠楠
Owner 江苏佰龄全基因生物医学技术有限公司
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