Novel deafness related gene mutation detection system and kit

Abstract

The invention discloses a novel deafness related gene mutation detection system, for detecting whether deafness gene mutation sites have mutation or not by using multiple PCR primers and a detection probe. The deafness gene mutation sites comprise a newly found CEACAM16 gene (NM_001039213.2)c.418A>C mutation site. The 32 sites selected by the detection kit are screened according to the latest human genetic deafness related gene mutation information and firsthand information accumulated by the inventor in clinical detection, and the selected sites are sites with relatively high mutation frequency in people of China and other countries and sites which are newly found in clinical detection by the inventor. Compared with deafness related gene mutation detection products available in the market, the kit covers relatively more detection sites so that the mutation detection rate is increased.

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% 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 divided into four categories: autosomal dominant, autosomal recessive, sex-linked and mitochondrial hereditary deafness. More than 114 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 defects in th...

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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