OTOF gene mutation detection kit related to auditory neuropathy spectrum disorder

Abstract

The invention discloses an otoferlin (OTOF) gene mutation detection kit related to auditory neuropathy spectrum disorder. The kit comprises a reagent for extracting DNA from a sample to be detected, apolymerase chain reaction (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 kit provided by the invention is used to detect whether c.4236delC deletion mutation of an OTOF gene occurs in a patient, so that the reason of occurrence of auditory neuropathy spectrum disorder is diagnosed. The kit is beneficial to clinically developing OTOF mutation screening work of patients with auditory neuropathy spectrum disorder, and provides abasis for diagnosis of patients with auditory neuropathy spectrum disorders.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to an OTOF gene mutation c.4236delC (p.E1414Sfs*108) typing detection kit used in the diagnosis of auditory neuropathy / acoustic neuropathy spectrum disorder. Background technique [0002] Auditory neuropathy (AN) is hearing impairment caused by dysfunction of cochlear inner hair cells, auditory nerve synapses or auditory nerve. It is an important disease that causes language and communication disorders in infants and adolescents, accounting for about 8% of new hearing loss children each year, and its incidence is closely related to genetic factors. [0003] Auditory neuropathy is divided into two types according to the site of onset: type I auditory neuropathy is the post-synaptic type; type II auditory neuropathy is synaptic and pre-synaptic. Cochlear implantation is the best treatment option for patients with severe sensorineural deafness in both ears, but it is only effective for t...

AI Technical Summary

Problems solved by technology

[0006] Based on the treatment experience reported in the literature at home and abroad, compared with traditional hearing aids and drug treatment, the intervention effect of cochlear implantation is more accurate, but the difference is large, and the selection of individual patients still needs to be cautious

Previous studies believed that the following aspects can be used to predict the effect of implantation: 1. If central system lesions are found on preoperative MRI, it may indicate poor postoperative effect, especially when there is cochlear nerve loss or abnormal shape; 2. Gene mutation The relationship between the type and the postoperative efficacy is still uncertain, and the existing research results can be used as a reference. It is generally believed that the postoperative effect of ANSD caused by OTOF mutations is better, and it is speculated that the direct electrical stimulation provided by the cochlear implant bypasses the lesion. site, while axonal damage leads to post-synaptic lesions and lesions involving the entire auditory nerve (such as hereditary ataxia and deafness-dystonia-optic neuron disease) are less effective after ANSD

There is no report about the OTOF gene mutation c.4236delC (p.E1414Sfs*108)

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