METHOD FOR REVEALING c-53-2A>G MUTATION IN PRESTIN GENE (SLC26A5) CAUSING DEVELOPMENT OF NON-SYNDROME-BASED AUTSOMAL-RECESSIVE DEAFNESS Russian patent published in 2014 - IPC C12Q1/68 G01N33/50 

Abstract RU 2505608 C1

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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RU 2 505 608 C1

Authors

Dzhemileva Lilja Useinovna

Lobov Semen Leonidovich

Khusnutdinova Ehl'Za Kamilevna

Dates

2014-01-27Published

2012-07-03Filed