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

A gene combination and syndrome technology, which is applied in the fields of biochemical equipment and methods, microbial determination/inspection, etc., can solve problems such as bad living habits and changes, and achieve the effects of high sensitivity, good repeatability and high throughput

Inactive Publication Date: 2011-06-29
UNION STEMCELL & GENE ENG +1
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  • Abstract
  • Description
  • Claims
  • Application Information

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

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Embodiment Construction

[0030] The present invention is used to determine the combination of primers, probes and uses of the PDS gene mutation of large vestibular aqueduct syndrome deafness, which includes the combination of five mutation sites of the PDS gene: IVS7-2A>G, A2168G (H723R), L236P, IVS8 +1G>A and T416P. Corresponding to the following SNP loci, respectively: rs111033313 locus, rs121908362 locus, rs80338848 locus, rs80338849 and rs28939086 locus.

[0031] The combination used to determine the PDS gene mutation of large vestibular aqueduct syndrome deafness is used to design specific primer pairs and probes for the site.

[0032] The primers of the present invention are designed for IVS7-2A>G (rs111033313), A2168G (rs121908362), L236P (rs80338848), IVS8+1G>A (rs80338849) and T416P (rs28939086), and can be used for multiplex PCR amplification , the gene fragments of the above five sites can be amplified simultaneously. Designing such primers is readily accomplished by those skilled in the ...

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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 ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
Inventor 韩俊领刘志霈周毓玲杜宏伟李楠靳霞刘蓉华陈勇
Owner UNION STEMCELL & GENE ENG
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