Hereditary deafness gene mutation detection kit

A detection kit, a technology for hereditary deafness, which is applied in the field of gene sequencing, can solve the problems of the restriction enzyme cleavage site being easily affected by gene mutation, the inability to further explain the patient's etiology, and the lack of detection sites, so as to avoid birth and delay. The effect of onset deafness, high clinical value and high positive detection rate

Inactive Publication Date: 2015-03-11
亚能生物技术(深圳)有限公司
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Problems solved by technology

[0005] Microarray chip detection requires whole blood DNA extraction (30min), PCR amplification (over 2h), product hybridization analysis (over 3h), etc. The detection time is long (over 6h), and the operation is cumbersome, which cannot meet the clinical requirements for deafness. The need for a large number of genetic screening; due to too many operating procedures, it is easy to cause sample cross-contamination; secondly, the recognition rate of a single base is relatively low, and false negatives and false positives are prone to occur, which affects the accuracy of the results; in addition, micro The cost of array chips is too high, requiring special chip scanning instruments, and the detection cost is high; the amplification efficiency of ordinary ARMS-PCR products is only 1-10% of normal amplification, so the amplification system lacks stability; four-primer ARMS-PCR One reaction can only detect one mutation site
The common disadvantages of common PCR products are: the genotype needs to be judged by the size of the band when interpreting the results, which lacks intuition
Gel electrophoresis detection results are prone to PCR cross-contamination, low detection sensitivity and time-consuming; using Taqman probes for SNP mutation detection requires 2 probes for each site detected, and has high requirements for probe specificity
The cost of probe synthesis is high, and there are requirements for the number of channels of the fluorescent PCR instrument, which is not c

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  • Hereditary deafness gene mutation detection kit
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  • Hereditary deafness gene mutation detection kit

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Embodiment 1

[0062] Embodiment 1 of the present invention is as follows: the hereditary deafness gene mutation detection kit of this embodiment performs a total of 108 mutations at 105 mutation sites on four hotspot genes related to hereditary deafness in human clinical genomic DNA samples by sequencing Qualitative detection, in which GJB235, 176, 187 three sites have two mutations. See Table 1 for details of detectable loci. This kit aims at the four hotspot genes of deafness, respectively designs specific primers in the conserved regions, and uses PCR method combined with sequencing technology to detect the mutation of each gene. The components of the kit in this example are shown in Table 11. Table 11 is a list of components of the kit of this embodiment.

[0063] Table 10

[0064]

[0065]

[0066]

[0067] Store below -18°C. Avoid repeated freeze-thaw cycles. Store the kit at 2-8°C or below -18°C after opening the bottle. Valid for 6 months. Qualitative PCR instrument ...

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Abstract

The invention relates to a hereditary deafness gene mutation detection kit. The hereditary deafness gene mutation detection kit comprises sequencing primers, wherein the sequencing primers comprise sequences as follows: SEQ ID NO:1-36. The hereditary deafness gene mutation detection kit has the advantages of multiple detection site, wide coverage range, high positive rate, high clinical usage value, high sensitivity, high accuracy, high detection specificity, high repeatability and good detection stability and can be applied to premarital screening, prenatal diagnosis and hereditary deafness gene site screening and detection for fetuses during pregnancy and deaf people, so that the birth of deaf children and occurrence of tardive deafness can be greatly avoided, economic burdens on the society and families can be reduced, and the good birth and the good care can be realized.

Description

technical field [0001] The invention relates to gene sequencing technology, in particular to a genetic mutation detection kit for deafness. Background technique [0002] Deafness is one of the most common sensory impairment diseases worldwide. Hereditary deafness can be divided into non-syndromic deafness and syndromic deafness. According to the second national sample survey of disabled people, there are about 20.04 million people with hearing disabilities in my country, accounting for 24.16% of the total number of disabled people; about 1.27 million people with speech disabilities caused by deafness, accounting for 1.53% of the total number of disabled people. The incidence of congenital deafness in newborns is about 1 / 1000, and more than half of the congenital deafness is related to genetics. [0003] In non-syndromic deafness, GJB2, SLC26A4 and mitochondrial DNA are the most common causative genes in my country. The GJB2 gene encodes connexin 26, which is involved in in...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 刘晶晶危林耿梁少明向筑
Owner 亚能生物技术(深圳)有限公司
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