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Gene detection kit for hereditary hearing loss

A technique for hereditary deafness and genetic testing, applied in the determination/inspection of microorganisms, biochemical equipment and methods, etc.

Active Publication Date: 2013-10-16
AGCU SCIENTECH +1
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Problems solved by technology

[0005] In order to improve the identification ability, the applicant conducted an in-depth investigation on the genetic polymorphisms of hotspot mutation sites of human deafness genes in various regions of the country, and selected 16 polymorphic sites with higher polymorphic sites and A European hotspot mutation site constitutes a PCR multiplex multiplex amplification system, and based on this, a genetic detection kit for hereditary deafness has been developed. This kind of kit has not been reported and used in the world so far, so it is always expected by people in the field Solved problems, has broad application prospects

Method used

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  • Gene detection kit for hereditary hearing loss
  • Gene detection kit for hereditary hearing loss
  • Gene detection kit for hereditary hearing loss

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Embodiment 1

[0052] 1. Determination of polymorphic loci

[0053]The polymorphic sites selected by the present invention all have high polymorphic information content, including the hotspot mutation sites of the deafness gene in the Chinese population, which greatly improves the haplotype diversity as a whole. Through large-scale sequencing screening, the 17 sites selected in the present invention are shown in Table 3. Through the polymorphism investigation of deafness-causing genes in the Chinese population, literature research, and database analysis, a total of 17 hereditary deafness mutation sites were finally identified, including 235delC, 299-300delAT, 176-191del16, AIVS7-2G and A1555G It is a hotspot mutation site in Chinese deaf population. Guarantee the identification ability of the human hereditary deafness gene DNA testing system.

[0054] Table 3 All 17 polymorphic sites involved in the present invention

[0055] site

allele

rCRS

site

allele

rCRS ...

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Abstract

The invention discloses a fluorescence detection kit capable of detecting 17 non-syndromic hereditary hearing loss susceptibility genes. The kit adopts 17 pairs of specific primers to conduct genetic typing on the hearing loss susceptibility genes, and 17 hotspot mutations in four most common Chinese hearing loss related genes can be detected at the same time in a single tube within 3 hours. The kit comprises primer combinations of 17 polymorphic sites of hereditary hearing loss on a GJB2 (CX26) gene, an SLC26A4 (PDS) gene, a GJB3 gene and a 12SrRNA (MTRNR1) gene, can be used for accurately judging the wild type, the pure mutant type or the hybrid type of the 17 sites, and achieves diagnosis and screening of the hearing loss genes. The kit provided by the invention can be applied to rapidly and efficiently detecting the hearing loss genes and is a rapid, convenient, economical and efficient screening kit for hearing loss virulence genes.

Description

technical field [0001] The present invention belongs to the technical field of biological in vitro diagnosis, and embodies the ARMS-PCR method (Amplification Regractory Mutation System, ARMS) and The combined application of fluorescence detection technology mainly involves a polymorphism site fluorescent labeling compound amplification system for non-syndromic hereditary deafness genes. Background technique [0002] At present, the kits used clinically for deafness gene detection are gene chip method and PCR sequencing method. With the advantages of a large number of detection sites, high sensitivity, good stability, cost-effectiveness, short time consumption and high throughput, it has obvious advantages in clinical deafness genetic screening, such as pre-pregnancy prevention, pregnancy intervention and postpartum screening. Check and so on. Deafness is one of the most common sensory impairment diseases worldwide, and congenital deafness can cause speech impairment. Acco...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
Inventor 郑卫国孟祥和董万强卢青葛海鹏卢文翔葛斌文薛佳郭育林
Owner AGCU SCIENTECH
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