New deafness associated gene mutation multi-site detecting system and reagent kit

Abstract

The invention discloses a new deafness associated gene mutation multi-site detecting system. A multiplex PCR primer and a detecting probe are used for detecting whether mutation exists in deafness gene mutation sites; and the deafness gene mutation sites comprise 46 deafness gene mutation sites. According to the new deafness associated gene mutation multi-site detecting system, rapid detection for 46 mutation sites on 3 genes of a chromosome, one gene of an X chromosome and mitochondrial genes are carried out by improving an existing multiplex nucleic acids amplification technique, designing a specific detecting probe and setting special detecting system components and reaction conditions; the sites are obtained by arranging a plenty of data accumulated in clinical and scientific research work; besides non-syndromic deafness, common Alport syndromes also can be detected; compared with similar detecting products existing in the market, a reagent kit can detect more associated gene mutation sites of syndromic / non-syndromic deafness, the detection can be finished within one workday, and an exact detecting result can be obtained only by needing 20-30 nanogram DNA to the minimum.

Description

technical field [0001] The invention relates to a gene mutation detection system in the field of hereditary deafness molecular detection, in particular to a new deafness-related gene mutation detection system and a kit. Background technique [0002] Deafness is a common clinical disease, mainly closely related to genetic factors and environmental factors, that is, it may be caused by related gene mutations, or it may be caused by environmental exposure, trauma, drugs, etc. It is reported that 50%-60% of congenital deafness in newborns is caused by genetic factors, and about 70% of the reported congenital cases are non-syndromic deafness. Such cases can be further divided into four types: autosomal dominant, autosomal recessive, sex-linked and mitochondrial hereditary deafness, and hundreds of deafness-related loci have been reported. [0003] At present, for the detection and diagnosis of hereditary deafness, the most commonly used method is to detect whether there are defe...

AI Technical Summary

Problems solved by technology

However, the equipment is expensive, and the operation is complicated and time-consuming

In addition, problems such as heterozygous mutations, gel compression, and the presence of GC-rich regions make it difficult to obtain accurate data with a single sequencing

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