| abstract |
FIELD: biotechnology. n SUBSTANCE: invention is intended for detecting mutation c.1121G>A (p.Trp374*) of CLIC5 gene causing autosomal recessive deafness-103. Method for DNA diagnosis of autosomal recessive deafness-103 (DFNB103), involving detection of nonsense mutation c.1121G>A(p.Trp374*) of CLIC5 gene, for which genomic DNA is extracted, PCR-RFLP analysis is carried out using the following original primers: (F) – 5'-CGCAACTATGATATCCCGGCTGAGATGACA-3', (R) – 5'-TGCTGGTATCATGGGAACTCCA-3' and restriction endonuclease Bsc4I. As a result of presence on electrophoregram of 293-bp fragment, carriage of the pathogenic allele in the homozygous state is diagnosed, which corresponds to positive DNA-diagnostics on DFNB103. n EFFECT: disclosed method is developed based on the obtained results of long-term molecular-genetic studies of neurosensory hearing disorders in Yakutia and enables fast and high-accuracy confirmation of autosomal recessive deafness-103 (DFNB103; OMIM#607293) caused by nonsense mutation c_1121G>A (p_Trp374*) of CLIC5 gene. n 1 cl, 2 dwg, 7 tbl, 7 ex |