Gene combinations, primer, probe and applications thereof for determining PDS gene mutation of large vestibular aqueduct syndrome deafness

Abstract

The invention discloses gene combinations, a primer, a probe and applications thereof for determining PDS gene mutation of large vestibular aqueduct syndrome deafness. The gene combinations comprise combinations of the following five mutant sites of PDS genes: IVS7-2A>G, A2168G (H723R), L236P, IVS8 +1 G>A and T416P which are respectively corresponding to the following SNP (single nucleotide polymorphism) sites: the rs111033313 site, the rs121908362 site, the rs80338848 site, the rs80338849 site and the rs28939086 site. According to the applications disclosed by the invention, a group of genes and sites related to the susceptibility of large vestibular aqueduct syndrome deafness are detected, and whether the subject population carry susceptible genes of large vestibular aqueduct syndrome deafness can be detected and analyzed comprehensively by using a specific primer and a specific probe by a mononucleotide extension technology combined with a microarray chip technology, thereby screening out susceptible population of large vestibular aqueduct syndrome deafness from the subject population, and achieving the purposes of rapid diagnosis and treatment.

Description

technical field [0001] The present invention relates to a gene mutation primer combination, probe and application, especially a gene combination, primer probe and application for detecting the large vestibular aqueduct syndrome deafness PDS gene mutation. 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 temporal bone scans, and named it the ...

AI Technical Summary

Problems solved by technology

[0007] The technical problem to be solved by the present invention is to comprehensively detect and analyze whether the tested population carries " Large vestibular aqueduct syndrome deafness susceptibility gene", to screen out the susceptible population of large vestibular aqueduct syndrome deafness from the crowd, change bad living habits, and achieve the purpose of prevention

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