Novel deafness related gene mutation detection system and kit

A system and detection probe technology, applied in the field of molecular detection of hereditary deafness, can solve the problems of expensive equipment, time-consuming, difficult data, etc., to improve the mutation detection rate, enrich the selection range of sites, and improve work efficiency Effect

Inactive Publication Date: 2015-03-18
XIANGYA HOSPITAL CENT SOUTH UNIV +1
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AI Technical Summary

Problems solved by technology

However, the equipment is expensive, and the operation is complicated and time-consuming
In addition, problems such as heterozygous

Method used

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  • Novel deafness related gene mutation detection system and kit
  • Novel deafness related gene mutation detection system and kit
  • Novel deafness related gene mutation detection system and kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0051] 1. DNA sample preparation

[0052] Collect blood from a selected deaf patient and a normal control individual in the hospital (it can also be a blood collection card, biological tissue, etc. containing the individual DNA of the sample); extract the DNA sample through a DNA extraction kit and take 1 microliter each 1% agarose electrophoresis performs quality inspection and concentration estimation on its samples, and then dilutes the samples to a working concentration of 10-20 ng / μl according to the estimated concentration.

[0053] 2. PCR reaction:

[0054] The composition of the multiplex PCR reaction system: the total volume of the system is 10 microliters, including 1.13 microliters of double distilled water (ddH2O), 5 microliters of 2xGC I buffer (2*GC Ⅰ buffer), and divalent magnesium ions (Mg 2+ ) 0.2 μl, deoxyribonucleoside triphosphate (dNTP) 1.6 μl, primer mix (Primer mix) 1 μl, thermostable DNA polymerase (Taq enzyme) 0.07 μl, tested sample DNA 1 microliter....

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Abstract

The invention discloses a novel deafness related gene mutation detection system, for detecting whether deafness gene mutation sites have mutation or not by using multiple PCR primers and a detection probe. The deafness gene mutation sites comprise a newly found CEACAM16 gene (NM_001039213.2)c.418A>C mutation site. The 32 sites selected by the detection kit are screened according to the latest human genetic deafness related gene mutation information and firsthand information accumulated by the inventor in clinical detection, and the selected sites are sites with relatively high mutation frequency in people of China and other countries and sites which are newly found in clinical detection by the inventor. Compared with deafness related gene mutation detection products available in the market, the kit covers relatively more detection sites so that the mutation detection rate is increased.

Description

technical field [0001] The invention relates to a gene mutation detection system in the field of hereditary deafness molecular detection, in particular to a new deafness-related gene mutation detection system and a kit. Background technique [0002] Deafness is a common clinical disease, mainly closely related to genetic factors and environmental factors, that is, it may be caused by related gene mutations, or it may be caused by environmental exposure, trauma, drugs, etc. It is reported that 50% of congenital deafness in newborns is caused by genetic factors, and about 70% of the reported congenital cases are non-syndromic deafness. Such cases can be divided into four categories: autosomal dominant, autosomal recessive, sex-linked and mitochondrial hereditary deafness. More than 114 deafness-related loci have been reported. [0003] At present, for the detection and diagnosis of hereditary deafness, the most commonly used method is to detect whether there are defects in th...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 冯永刘德远梅凌云贺楚胜刘亚兰蒋璐陈红胜余锋
Owner XIANGYA HOSPITAL CENT SOUTH UNIV
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