Kit for detecting mutation of pathogenic gene GJB2 of sensorineural deafness

Abstract

The invention discloses a kit for detecting mutation of a pathogenic gene GJB2 of sensorineural deafness. The kit includes reagents for extracting DNA from a sample to be tested, PCR reaction reagentsfor amplifying the sample DNA, and reagents for sequencing PCR amplified products. The PCR reaction reagents for amplifying the sample DNA include PCR primers. The kit can be used for detecting the mutation of the GJB2 gene c.67dupA in patients and diagnosing the cause of sensorineural deafness. The kit can be helpful for carrying out screening work of the mutation of GJB2 in patients with sensorineural deafness in clinic and provides a basis for the diagnosis of the patients with sensorineural deafness.

Description

Technical field [0001] The invention relates to the field of gene detection, in particular to a GJB2 gene single mutation site c.67dupA (p.Ile23Asnfs*25) typing detection kit used in clinical diagnosis of sensorineural hearing loss. Background technique [0002] The GJB2 gene is the most common deafness gene. The Cx26 encoded by the GJB2 gene belongs to the gap junction protein gene family, which was cloned in 1993 and located at 13q11-12. In 1997, some scholars discovered that GJB2 gene mutations are closely related to hereditary non-syndromic deafness. The Cx26 encoded by the GJB2 gene forms a complete gap junction channel with the gap junction protein of adjacent cells. This channel plays an important role in signal transduction and material exchange, and is also an important channel for the cell-to-cell conversion of electrolytes, second messengers and metabolites. , The potassium ion circulation of cochlear hair cells and cochlear endolymph is regulated by the above gap jun...

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 mutation of GJB2 gene c.67dupA(p.Ile23Asnfs*25)

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