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
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[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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