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A kind of genetic detection kit for congenital and susceptibility deafness

A detection kit and deafness gene technology, which is applied in the fields of life science and biology, can solve problems such as complex operation, inability to meet the joint detection of multiple mutation sites, and increased difficulty in instrument requirements, so as to achieve the effect of improving accuracy

Active Publication Date: 2018-05-15
ZHEJIANG UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, in addition to the above-mentioned problems, the kit uses four-color fluorescent labels, which increases the difficulty in terms of instrument requirements.
In 2012, Shanghai Jiaotong University invented a gene chip and preparation method for non-invasive prenatal diagnosis of high-risk hereditary deafness (notice number: CN 102719538 A). The 8 hotspot mutation sites of hereditary deafness in the population are detected. Although the detection specificity and stability of this method are very good, the operation is relatively complicated. In addition to multiplex PCR reactions, ligase reactions are also required
Although these detection methods reduce the cost to a certain extent, the operation steps are not simple enough, and cannot meet the joint detection of multiple mutation sites in mtDNA

Method used

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  • A kind of genetic detection kit for congenital and susceptibility deafness
  • A kind of genetic detection kit for congenital and susceptibility deafness
  • A kind of genetic detection kit for congenital and susceptibility deafness

Examples

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Embodiment 1

[0028] A congenital and susceptible deafness gene detection kit, which detects solid-phase chips for congenital deafness genes and susceptibility deafness genes SNP, probes required for multiplex PCR, multiplex PCR reaction solution, and hybridization solution and elution of the kit Liquid composition. Among them, the solid-phase chip for detecting SNPs of congenital deafness genes and susceptibility deafness genes includes a solid-phase carrier and a detection probe (21 bases) fixed on the solid-phase carrier, and the detection probe has a detection probe such as SEQ ID No: 1- For the sequence shown in 42 (Table 3), the solid support can be made of silicon wafer or glass slide (but not limited to the above materials), and the surface modification is amino or aldehyde group modification. The components required for multiplex PCR include multiplex PCR primers (Table 1), with the sequence shown in SEQ ID No: 43-58; multiplex PCR reaction solution, including Phusion and other high...

Embodiment 2

[0040] Example 2 Detection of hereditary deafness families carrying mtDNA mutations

[0041] 1. Multiplex PCR primer design (see Table 1): target fragments covering 12 genes.

[0042] 2. Probe design and layout.

[0043] For 12 mitochondrial genes and 22 SNP sites, 42 probe sequences were designed. The length of the probe was 21 bases. The uniformity and hybridization specificity of the probe were modified by special bases during the probe synthesis process. For example, the main principles of LNA modification are as follows: 1) If only one SNP (Single Base Oligonucleotide Polymorphism) occurs in the length of this probe, the SNP site is designed in the center of the probe (3-16 Position base) position; 2) If two SNPs (Single Base Oligonucleotide Polymorphisms) occur in a probe, the probe is designed by permutation and combination method, that is, judged by detecting the highest signal value The type of sample base detected.

[0044] In order to ensure the accuracy of the chip, a to...

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Abstract

The invention provides a congenital and susceptible deafness gene detection kit. The kit is composed of congenital deafness gene and susceptible deafness gene SNP detection chips, probes needed by multiplex PCRs, multiplex PCR reaction liquid, a kit hybridization solution and eluent. The detection probes have the sequences shown as SEQ ID No:1-42. Multiplex PCR primers have the sequences shown as SEQ ID No:43-58. According to the kit, mutation site detection is conducted through the chip technology, a plurality of mutation sites can be screened and detected at the same time, the accuracy of adjacent site genetype judgments is greatly improved through the design and layout of the primers and the probes, a plurality of deafness-related mutation sites on mtDNA can be screened and detected at the same time, and meanwhile specific detection can be greatly improved.

Description

Technical field [0001] The invention belongs to the field of life science and biotechnology, and specifically relates to a solid-phase chip, probes and related detection kits for detecting congenital and susceptible deafness gene SNP. Background technique [0002] Deafness is a common disease that leads to speech communication disorders, which seriously affects people's physical and mental health and quality of life. The second sample survey of persons with disabilities in 2006 showed that there are currently about 27.8 million hearing and speech disabilities in my country, of which 800,000 deaf and dumb children under 7 years old, and one deaf child in 700-1,000 newborns. Deafness can be divided into non-syndromic deafness and syndrome-type deafness. About 70% of patients have non-syndromic deafness, that is, only the clinical symptoms of a single hearing impairment. Syndrome deafness, except for hearing impairment, often Accompanied by other abnormal clinical symptoms. Both e...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C40B40/06
CPCC12Q1/6883C12Q2600/156C12Q2600/16
Inventor 管敏鑫蒋萍萍郑静陈烨冀延春
Owner ZHEJIANG UNIV