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Deafness pathogenic gene detection kit utilizing time-of-flight mass spectrometry

A technology of time-of-flight mass spectrometry and detection kits, which is applied in the field of molecular biology, can solve the problems that the clinical diagnosis rate of the pathogenic gene SLC26A4 cannot meet the clinical needs, and cannot meet the clinical needs of deafness gene diagnosis, and achieve multiple mutation detection sites, Simple operation, short cycle time and high throughput

Inactive Publication Date: 2018-05-01
国家卫生健康委科学技术研究所
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Problems solved by technology

[0006] Judging from the current clinical deafness gene testing situation in China, the existing testing products cannot meet the needs of clinical deafness gene diagnosis, especially the clinical diagnosis rate of SLC26A4, the main pathogenic gene of enlarged vestibular aqueduct (EVAS), cannot meet the clinical needs.

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  • Deafness pathogenic gene detection kit utilizing time-of-flight mass spectrometry
  • Deafness pathogenic gene detection kit utilizing time-of-flight mass spectrometry
  • Deafness pathogenic gene detection kit utilizing time-of-flight mass spectrometry

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Embodiment Construction

[0018] In order to enable those skilled in the art to better understand the technical solutions in the application, the present invention will be further described below in conjunction with the following examples. Obviously, the described embodiments are only a part of the embodiments of the application, rather than all Example. Based on the embodiments in this application, all other embodiments obtained by persons of ordinary skill in the art without making creative efforts shall fall within the scope of protection of this application.

[0019] 1. Basic principle of MassArray

[0020] The full name of time-of-flight mass spectrometry is matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS). The main feature is that the product after PCR amplification is added with a SNP sequence-specific extension primer, and the SNP site is extended by 1 base. Then the prepared sample analyte is co-crystallized with the chip matrix, the crystal is plac...

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Abstract

The invention provides a deafness pathogenic gene detection kit utilizing a time-of-flight mass spectrometry. The kit comprises a reagent for detecting at least following 26 mutation sites of 12S rRNA(ribosomal Ribonucleic Acid), GJB2 and SLC26A4 genes: 12S rRNAm.1494-C is greater than T, 12S rRNAm.1555Ais greater thanG, GJB2c.35delG, GJB2c.257C is greater than G, GJB2c.427C is greater than T, GJB2c.176del16, GJB2c.9G is greater than A, GJB2c.235delC, GJB2c.299-300delAT, SLC26A4IVS4+2T is greater than C, SLC26A4c.1673A is greater than T, SLC26A4c.1520delT, SLC26A4c.2027T is greater than A, SLC26A4c.1975G is greater than C, SLC26A4c.1226G is greater than A, SLC26A4c.1318A is greater than T, SLC26A4c.1229C is greater than T, SLC26A4c.281C is greater than T, SLC26A4c.2168A is greater than G,SLC26A4IVS7-2A is greater than G, SLC26A4c.1174A is greater than T, SLC26A4c.235C is greater than T, SLC26A4c.1340delA, SLC26A4_c.589G is greater than A, SLC26A4c.916-917insG and SLC26A4c.IVS15+5G isgreater than A. The kit provided by the invention has the advantages of more mutation detection sites, high throughput, simplicity in operation and short period, high accuracy, high stability and lowcost.

Description

technical field [0001] The invention relates to the field of molecular biology, in particular to a deafness-causing gene detection kit using time-of-flight mass spectrometry technology. Background technique [0002] Deafness is one of the most common birth defects and one of the most common sensory dysfunctions in humans. Studies have shown that the incidence of bilateral hearing impairment (≥40dB) in newborns is 1 / 500; by puberty, the incidence of hearing impairment increases to 3.5 / 1000. According to the second sample survey of disabled people in 2006, the deaf population is the largest group of disabled people except physical disabilities in my country, about 27.8 million, of which 800,000 are deaf-mute children under 7 years old, and 1-14 years old are deaf-mute. 1.17 million. The "Report on the Prevention and Control of Birth Defects in China (2012)" released in 2012 clearly pointed out that the incidence rates of congenital hearing impairment in the country from 2008 ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6858
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/16C12Q2531/113C12Q2537/143C12Q2533/101C12Q2565/627
Inventor 马旭金孝华高华方
Owner 国家卫生健康委科学技术研究所
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