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Method and application of hereditary hearing loss screening based on MassArray nucleic acid mass spectrum platform

A hereditary deafness and screening technology, applied in the field of hereditary deafness screening, can solve the problems of high technical requirements, general sensitivity, long detection period, etc., and achieve the effects of large clinical application value, high sensitivity and short detection period.

Active Publication Date: 2020-09-25
SIMCERE DIAGNOSTICS CO LTD +2
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] At present, there are many detection methods with their own characteristics. The microarray chip method is easy and fast to operate, but the throughput is limited and the sensitivity is average.
The high-throughput genetic detection technology solves the limitation of throughput, but it has high cost, long detection cycle, and high technical requirements for experimental operators and data analysts, so it has not been widely used in clinical detection.

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  • Method and application of hereditary hearing loss screening based on MassArray nucleic acid mass spectrum platform
  • Method and application of hereditary hearing loss screening based on MassArray nucleic acid mass spectrum platform
  • Method and application of hereditary hearing loss screening based on MassArray nucleic acid mass spectrum platform

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Experimental program
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Effect test

Embodiment 1

[0094] Example 1 Demonstration and Screening of Detection Sites

[0095] Although loci related to deafness detection have been disclosed in the prior art, it is not easy to select or combine loci that are truly clinically meaningful and effective for screening. The selection of the site to be tested in the present invention needs to have: 1) the mutant type of the site can produce a clear pathogenic effect; 2) the mutant type has the detection significance of the Chinese population, and is carried at a high frequency in Chinese deaf patients. The present invention refers to databases such as ACMG, ExAC, 1000Genomes, dbSNP, ClinVar, HGMD, etc., and preliminarily screens the pathogenic loci with high frequency carried by Chinese deaf patients.

[0096] Subsequently, the present invention has been verified by the medical side to establish sites covering the clinically recognized "pathogenicity" and "suspected pathogenicity". The setting is more meaningful for screening and detec...

Embodiment 2

[0104] The design of embodiment 2 primers and the establishment of reaction system

[0105] Given that MassARRAY detection is a reaction based on multiplex PCR amplification, primer combinations must avoid issues such as cross-amplification, biased amplification, and non-specificity (D. van den Boom et al. / International Journal of Mass Spectrometry, 238(2004) , 173-188), so the primer design of this reaction system needs to be obtained through a certain amount of optimization.

[0106] First, the present invention adjusts relevant parameters through the primer design software (AssayDesign Suite) of the MassARRAY website, completes the preliminary design of primers for PCR and UEP at 28 sites, derives the designed primers and each parameter file, and synthesizes the primers. Prepare amplification primer MIX and extension primer MIX according to the primer configuration table, and fine-tune the extension primer MIX until it meets the requirements. Primer testing and optimizatio...

Embodiment 3

[0153] The verification of embodiment 3 reaction system

[0154] After confirming the optimal reaction system, the present invention carries out a series of verification experiments, including accuracy, precision, personnel comparison and comparison experiments between different batches of primers. The specific verification scheme is as follows:

[0155] (1) Accuracy experimental verification plan: select one sample from each of the 28 sites for Sanger sequencing, and compare the results of Sanger sequencing and MassARRAY.

[0156] Since the deafness mutation is a very rare clinical mutation type, it is extremely difficult to collect clinical samples, so two types of plasmids, mitochondrial mutation and genome mutation, were synthesized, including the sites: rs267606617, rs267606618, rs267606619 and rs956666801. Protist sperm DNA was mixed with two types of plasmids, and 9 plasmid samples were mixed for comparison and verification (plasmid synthesis was verified by Sanger seq...

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Abstract

The invention provides a primer group, a method and application of a hereditary hearing loss screening based on a MassArray nucleic acid mass spectrum platform. The primer group for detecting SNP sites related to hereditary hearing loss and a detection system thereof are designed on the basis of the MassArray nucleic acid mass spectrum platform, so that mutation types such as point mutation, deletion mutation and mitochondrial point mutation and the like related to hereditary hearing loss diseases can be accurately typed, and rapid and effective detection of hereditary hearing loss diseases isrealized.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a method for screening hereditary deafness based on a MassArray nucleic acid mass spectrometry platform and its application. Background technique [0002] It is estimated that the total incidence of birth defects in my country is about 5.6%. Birth defects seriously affect the survival and quality of life of children, and bring great pain and economic burden to children and their families. [0003] According to the "China Birth Defect Prevention Report (2012)" data, hearing impairment is the second largest birth defect disease in my country, and hearing disability accounts for 24.97% of congenital disabilities. There are currently 20.54 million hearing disabled people in my country, including more than 800,000 children aged 0-6, and 30,000 new deaf children are added every year, and the total number of new hearing-impaired children exceeds 60,000. In terms of treatment, there is no ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2531/113C12Q2533/101C12Q2565/627
Inventor 曹尚志虞梦寂卜范峰丁然吴炳耀郑媛媛李诗濛任用
Owner SIMCERE DIAGNOSTICS CO LTD
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