METHOD FOR DETECTING 17 GJB2 AND GJB6 GENE MUTATIONS ACCOMPANYING NONSYNDROMIC DEAFNESS

摘要

FIELD: medicine.;SUBSTANCE: what is offered is a molecular genetic diagnostic technique for nonsyndromic deafness (NSD) that implies detecting 17 disease-related GJB2 and GJB6 gene mutations by PCR amplification of appropriate regions conducted in 8 reaction mixtures with the use of specific primer pairs that is followed by analysing the produced amplicons either without preliminary endonuclease cleavage (in identifying the mutations c.312dell4, c.333-334delAA, ΔGJB6-D13S1830, ΔGJB6-D13S1854), or following the hydrolysis with appropriate specific restrictases (in identifying the mutations IVS1+1GA, c.35delG, c.71GA, c.79GA, c.167delT, c.235delC, c.224GA, c.299-300delAT, c.360delGAG, c.341AG, c.269TC, c.101TC, c.109GA).;EFFECT: use of the invention enables more accurate, objective diagnosis of inherited autosomal-recessive hearing loss.;2 tbl, 8 dwg, 3 ex