Gene detection kit for hereditary hearing loss

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...

AI Technical Summary

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

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