Kit for detecting mutation of sensorineural deafness pathogenic gene GJB2

Abstract

The invention discloses a kit for detecting mutation of a sensorineural deafness pathogenic gene GJB2. The kit comprises a reagent for extracting DNA from a sample to be detected, a PCR reaction reagent for amplifying the DNA of the sample, and a reagent for sequencing a PCR amplification product; wherein the PCR reaction reagent for amplifying the DNA of the sample comprises a PCR primer. The kitis used for detecting whether a GJB2 gene c. 142C) T mutation exists in a patient so as to diagnose the cause of sensorineural deafness; the kit facilitates clinically developing GJB2 mutation screening work of sensorineural deafness patients, and provides a basis for the diagnosis of sensorineural deafness.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a detection kit for the c.142C>T (p.Gln48*) typing detection kit for a single mutation site of GJB2 gene used in clinical diagnosis of sensorineural deafness. Background technique [0002] The GJB2 gene is the most common deafness gene. Cx26 encoded by the GJB2 gene belongs to the connexin gene family, which was cloned in 1993 and located at 13q11-12. In 1997, some scholars found that GJB2 gene mutations are closely related to hereditary non-syndromic deafness. Cx26 encoded by the GJB2 gene forms a complete gap junction channel with the gap junction protein of adjacent cells, which plays an important role in signal transduction and material exchange, and is also an important channel for intercellular conversion of electrolytes, second messengers and metabolites , cochlear hair cells and potassium ion circulation in cochlear endolymph are regulated by the aforementioned gap junct...

AI Technical Summary

Problems solved by technology

The cause of deafness may be that mutations in the coding region of the GJB2 gene lead to truncated proteins in protein translation, resulting in non-functional proteins, affecting the structure of gap junction proteins, thereby affecting the normal opening and closing of the above-mentioned channels; non-truncating mutations may also occur, not Affect the expression of protein, but it will affect the permeability of gap junction protein; the abnormality of gap junction channel can lead to the circulation of potassium ions back to the endolymph, and the concentration of potassium ions will change. Reaching a certain concentration will lead to potassium poisoning, cochlear Hair cell damage, leading to sensorineural deafness, and most people manifest as congenital deafness, and most of them manifest as severe or extremely severe sensorineural deafness

There is no report about the c.142C>T(p.Gln48*) mutation of the GJB2 gene

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