Probe and kit for detecting common mutations of large vestibular aqueduct-related deafness gene

Abstract

The invention relates to a real-time fluorescence quantitative probe and a kit for detecting IVS7-2A>G, which is one of 10 common mutations of an autosomal recessive inheritance large vestibular aqueduct-related deafness gene SLC26A4, wherein the kit comprises the real-time fluorescence quantitative probe. The wild-type probe is positioned at a site of 23403bp-23425bp; the mutant-type probe is positioned is positioned at a site of 23404bp-23425bp. In allusion to the Taqman mutant-type probe and the wild-type probe at mutation points and a pair of primers, the probes are high in specificity, high in sensitivity, and intuitive, accurate and reliable in test results, applicable to mass screening of the common mutation IVS7-2A>G of the autosomal recessive inheritance large vestibular aqueduct-related deafness gene SLC26A4 and rapid diagnosis of a SLC26A4 gene-related large vestibular aqueduct deafness.

Description

technical field [0001] The invention relates to the technical field of genetic engineering, in particular to a probe for diagnosing autosomal recessive large vestibular aqueduct syndrome and its application, more specifically to detecting the autosomal recessive large vestibular aqueduct-related deafness gene SLC26A4 A real-time fluorescent quantitative MGB probe for the common mutation IVS7-2A>G and a kit comprising the probe. The present invention also relates to the application of the probe and its related products in the preparation of kits or similar products for diagnosing autosomal recessive large vestibular aqueduct deafness. Background technique [0002] Enlarged Vestibular Aqueduct (EVA) is the most common inner ear deformity, accounting for about 1-12% of patients with sensorineural hearing loss. The clinical manifestations are preschool-onset sensorineural or low-frequency mixed hearing loss, mainly high-frequency loss, and the degree of hearing loss varies f...

AI Technical Summary

Problems solved by technology

The former is the gold standard for mutation detection, but it is relatively time-consuming and expensive, and is not suitable for large-scale screening

The latter has the advantage of low cost, but it still needs cumbersome processing after polymerase chain reaction, which takes a long time. To overcome this shortcoming, we designed a simpler, faster, more accurate, less polluting and lower-cost assay method to meet the need for rapid screening of common mutations in the SLC26A4 gene

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