FIELD: biotechnology.
SUBSTANCE: invention refers to biotechnology, namely to molecular biology, medical genetics and otorhinolaryngology. Disclosed are synthetic oligonucleotides for diagnosing (genotyping) of 167delT (rs80338942) mutation of GJB2 gene in human biomaterial. Primers and probes are combined into DNA detection kits in human biomaterial by polymerase chain reaction.
EFFECT: invention enables highly sensitive diagnosis of congenital hereditary deafness in biological material; using this method provides also highly sensitive and objective description of human genotype with determination of homozygous and heterozygous carriage of this mutation.
1 cl, 2 dwg, 2 tbl
Title | Year | Author | Number |
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METHOD FOR DIAGNOSING MUTATION C.-23+1G>A (RS80338940) OF THE GJB2 GENE | 2020 |
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DIAGNOSTIC TECHNIQUE OF 35DELG (RS80338939) MUTATION OF GJB2 GENE | 2020 |
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METHOD FOR DETECTING 17 GJB2 AND GJB6 GENE MUTATIONS ACCOMPANYING NONSYNDROMIC DEAFNESS | 2010 |
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METHOD OF DETECTING MUTATIONS OF GJB2 GENE CAUSING AUTOSOMAL-RECESSIVE DEAFNESS 1A TYPE | 2017 |
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|
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METHOD FOR DIFFERENTIAL AND CONFIRMING MOLECULAR GENETIC DIAGNOSIS OF SENSORINEURAL HEARING LOSS IN A POPULATION OF CHUVASH | 2021 |
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RU2768033C1 |
METHOD OF DNA-DIAGNOSTICS OF AUTOSOMAL RECESSIVE DEAFNESS-103 | 2019 |
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RU2727684C1 |
METHOD FOR SIMULTANEOUS DIAGNOSIS OF HEREDITARY DISEASES | 2015 |
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RU2627115C2 |
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RU2791878C1 |
Authors
Dates
2020-12-30—Published
2020-04-22—Filed