ABSTRACT
Objective To learn the situation of deafness gene among deaf children and to provide suggestions for intervention.Methods Twenty hot spot mutations of the common deafness genes of GJB2,GJB3,MT -RNR1,SLC26A4 for 93 deafness patients were detected by MALDI -TOF -MS,and Sanger sequencing method was used to detect the whole exon of the gene for the heterozygous mutant.Results A total of 48 cases were detected with mutation among the 93 patients using MALDI -TOF -MS,and the detection rate was 51.61%.Thirty five cases were GJB2 mutation,and the detection rate was 37.63%,in which 24 cases were homozygous mutation or compound heterozygous mutations and 11 cases were heterozygous mutation.Thirteen cases were SLC26A4 mutation,and the detection rate was 13.98%,in which 6 cases were homozygous mutation or compound heterozygous mutations and 7 cases were single heterozygous mutation.Mutation in MT -RNR1 and GJB3 gene were not detected.Among the 18 mutation cases,17 cases were detected the whole exon of the gene with mutation using Sanger sequencing,and 12 cases were detected other loci heterozygous mutation (70.59%).And a total of 42 cases were found out the cause of the deafness,and the detection rate was 45.16%.Conclusion The mutation of the common deafness gene in patients with deafness in the region has a high detection rate.The whole exon of the gene with mutation was detected,which can improve the detection rate of the cause of deafness.