Detection and analysis of common gene mutation site of deafness in north area of Anhui

Objective:To detect the common gene mutation site of deafness in north area of Anhui,and analyze the genetic etiology of deafness.Methods:The common nine gene mutation sites of GJB2,SLC26A4,mtDNA12SrRNA and GJB3 in 189 patients with deafness were detected,the correlation of which with deafness was analyzed.Results:Among 189 patients,the gene mutation sites in 27 cases caused by other diseases and 29 patients with sudden deafness were not detected.Among 133 patients with non-syndromic hearing loss(NSHL),the gene mutation sites in 55 cases(41.35%) were identified,the most common mutation genes were the GJB2(24.81%),SLC26A4(12.03%) and mtDNA12SrRNA(6.02%) in turn.The most common mutation sites were 235delC,IVS7-2A>G and 1555A>G,and the mutation rates of alleles of whose were 35.45%,20.00% and 11.82%,respectively.Conclusions:In NSHL patients from north area of Anhui,the most common mutation gene of deafness is GJB2,and the most common mutation site is 235delC.