| 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, öGJB6-D13S1830, öGJB6-D13S1854), or following the hydrolysis with appropriate specific restrictases (in identifying the mutations IVS1+1G>A, c.35delG, c.71G>A, c.79G>A, c.167delT, c.235delC, c.224G>A, c.299-300delAT, c.360delGAG, c.341A>G, c.269T>C, c.101T>C, c.109G>A). ^ EFFECT: use of the invention enables more accurate, objective diagnosis of inherited autosomal-recessive hearing loss. ^ 2 tbl, 8 dwg, 3 ex |
