Characterization of gene mutations in deafness patients of Han and Mongolian ethnicities in Inner Mongolia
Objective To analyze the gene mutation frequencies of non-syndromic hearing loss (NSHL) patients of Mongolian and Han ethnicity in Hohhot,Inner Mongolia,China,and to provide a reference for establishing a regional deafness gene mutation map.Methods A total of 87 Han Chinese and 38 Mongolian patients with NSHL in our region were examined using high-throughput sequencing.The mutation spectrum and frequency of deafness genes in our region were then statistically analyzed.Results In this study,at least one mutation allele was detected in 62 out of 125 patients.This included 31 GJB2 mutations (24.8％),26 SLC26A4 mutations (20.8％),3 GJB3 mutations (2.4％),and 2 MT-CO1 gene mutations (1.6％).The gene mutation frequency was 56.32％ (49/87) in Han patients and 34.21％ (13/38) in Mongolian patients with NSHL.Mutation sites of the GJB2 gene accounted for 25.29％ (55/250) of all alleles.The pathogenic mutation sites of the GJB2 gene in Han patients accounted for 26.44％(46/174) of all alleles,while in Mongolian patients,it accounted for 11.84％ (9/76) of all alleles.There was a significant difference in the frequency of mutations in deafness genes between Han and Mongolian patients.Specifically,the GJB2 gene and GJB2 c.235delC showed significant differences between the two nationalities.Conclusion The GJB2 c.235delC and SLC26A4 c.919-2A>G mutations were most commonly found in patients with NSHL in our region.The frequency of the GJB2 gene mutation in Han patients was significantly higher than in Mongolian patients,and the mutation spectra of the GJB2 and SLC26A4 genes also differed between the two groups.
NSHLHan nationalityMongolian ethnicitiesGene mutationsMutation frequency
万方数据
维普
