FIELD: biotechnologies.
SUBSTANCE: invention represents method for revealing c.-53-2A>G mutation in SLC26A5 gene accompanied with the development of non-syndrome-based autsomal-recessive deafness. Method includes DNA separation from lymphocytes of peripheral blood by method of phenolic-chloroform extraction. There performed is a polymerase chain reaction with the possibility to perform fluorescence analysis at final point. Two areas of SLC26A5 gene are simultaneously amplificated in mixture of two pairs of sequences of oligonucleotides with fluorescent mark: CACCACAAAGAAGAGATG, TCAGCATGATCCATAGTAC, FAM- agtgtCacTagGggaaaa-BHQ-1, VIC-agtgtCacCagGggaaaa-BHQ-2, flanking the area with possible mutation of c.-53-2A>G in SLC26A5 gene.
EFFECT: invention allows obtaining accurate, objective clinical diagnosis of genetic autsomal-recessive deafness.
1 dwg, 2 tbl, 2 ex
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Authors
Dates
2014-01-27—Published
2012-07-03—Filed