A method for detecting mutations C.-53-2A G Prestin gene (SLC26A5), causes the development of non-syndromic autosomal recessive deafness

摘要

A method for detecting mutations c.-53-2A G in the SLC26A5 gene, accompanied by the development of non-syndromic deafness, autosomal recessive, comprising isolating DNA from peripheral blood lymphocytes by phenol-chloroform extraction, polymerase chain reaction, with the analysis of the endpoint fluorescence, wherein in that the two simultaneously amplified gene region SLC26A5v mixture of two pairs of oligonucleotides with sequences of fluorescent label: SLC26A5-IVS2-2-FJ, CACCACAAAGAAGAGATG, SLC26A5-IVS2-2-RJ, TCAGCATGATCCATAGTAC, SLC26A5-IVS2-2-FAM, FAM-agtgtCacTag Gggaaaa-BHQ-1, SLC26A5-IVS2-2-VIC, VIC-agtgtCacCagGggaaaa-BHQ-2 flanking region potentially containing mutations c.-53-2A G in the SLC26A5 gene.