METHOD FOR DETECTION OF MUTATIONS INGJB2 GENE ACCOMPANYING WITH DEVELOPMENT OF NONSYNDROMAL AUTOSOMAL-RECESSIVE DEAFNESS Russian patent published in 2008 - IPC G01N33/50 C12Q1/68 

FIELD: medicine, medicinal genetics, otorhinolaryngology.

SUBSTANCE: method involves isolation of DNA from lymphocytes of peripheral blood by method of phenol-chloroform extraction and amplification of three sites of GJB2 gene simultaneously in mixture of three pairs of sequences of the following oligonucleotides: (35delG) (F) 5'-CTTTTCCAGAGCAAACCGCCC-3', (R) 5'-TGCTGGTGGAGTGTTTGTTCAC-3'; (167delT) (F) 5'-ATGAGCAGGCCGACTTTGTCTG-3', (R) 5'-GTGGGAGATGGGGAAGTAGTGA-3'; (235delC) (F) 5'-ACGATCACTACTTCCCCATCTC-3'; (R) 5'-ACTAGGAGCGCTGGCGTGGGAC-3', flanking region with possible presence of mutations 35delG, 167delT and 235delC. In the presence of alleles 89 nucleotide pairs (n. p.) and 88 n. p., 83 n. p. and 82 n. p., 79 n. p. and 78 n. p. the presence of heterozygous mutations 35delG, 167delT and 235delC is diagnosed, in the presence of alleles 88 n. p., 82 n. p. and 78 n. p. - the presence of homozygous mutations 35delG, 167delT and 235delC is diagnosed. Using the invention allows preparing the precise objective clinical diagnosis of hereditary autosomal-recessive deafness.

EFFECT: improved method for detecting mutations.

1 tbl, 1 dwg, 2 ex