Kit for detecting susceptibility of large vestibular aqueduct syndrome epicophosis

Abstract

The invention discloses a kit for detecting the susceptibility of large vestibular aqueduct syndrome epicophosis, which is used for detecting the following five mutational sites of the PDS gene: IVS7-2A>G, A2168G (H723R), L236P, IVS8+1G>A and T416P, which are respectively corresponding to the following SNP (single nucleotide polymorphism) sites: rs11103313 site, rs121908362 site, rs80338848 site, rs80338849 site and rs28939086 site. The kit can be used for clearly judging if the checked people carry a large vestibular aqueduct syndrome epicophosis susceptible gene by detecting a group of large vestibular aqueduct syndrome epicophosis PDS gene mutational sites by means of a specific primer and a probe based on a mononucleotide extending technique combined with a micro array chip technique, thereby screening out the people who can easily suffer from large vestibular aqueduct syndrome epicophosis from the crowd, enabling the people to change the undesirable living habits and achieving the preventing purpose.

Description

technical field [0001] The invention relates to a kit for detecting disease susceptibility, in particular to a kit for detecting susceptibility to deafness caused by large vestibular aqueduct syndrome. ), to predict individual susceptibility to large vestibular aqueduct syndrome deafness. Background technique [0002] Deafness is a common condition that seriously affects quality of life and communication. It can be caused by a single gene mutation or a compound mutation of different genes, and can also be caused by environmental factors or a combination of genes and the environment. The incidence of newborn deafness is 1-3 / 1000. It is generally believed that hereditary deafness accounts for 50% of childhood deafness, which has high genetic heterogeneity. GJB2 gene and PDS (SLC26A4) gene are the two most common causative genes in non-syndromic autosomal recessive deafness. In 1978, Valvassori and Clemis found 50 cases of enlarged vestibular aqueduct in 3700 consecutive tem...

AI Technical Summary

Problems solved by technology

[0007] The technical problem to be solved by the present invention is, by detecting a group of large vestibular aqueduct syndrome deafness PDS gene mutation sites, using specific primers and probes, combining single nucleotide extension technology with microarray chip technology, comprehensive detection and Analyze whether the tested population carries the "susceptibility gene of large vestibular aqueduct syndrome", screen out the susceptible group of large vestibular aqueduct syndrome deafness from the crowd, change bad living habits, and achieve the purpose of prevention

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