METHOD OF DETECTING MUTATIONS OF GJB2 GENE CAUSING AUTOSOMAL-RECESSIVE DEAFNESS 1A TYPE

摘要

FIELD: medicine.;SUBSTANCE: invention refers to medicine, particularly to medical genetics and otorhinolaryngology, and aims at detecting mutations of the GJB2 gene causing autosomal-recessive deafness of type 1A. Disclosed is a method involving detection of three most common mutations in Yakutia c.-23 + 1G A, p.35delG and c.109G A using primers and followed by analysis of polymorphism of restriction fragment lengths using endonucleases AsuHPI, Bsc4I, HindII.;EFFECT: invention provides fast and accurate detection of GJB2-mutations responsible for 98 % of all pathogenic variants causing autosomal recessive deafness of type 1A in Yakutia.;1 cl, 6 dwg, 1 tbl