Feature Analysis Of Deafness-related Genes In Hearing Impaired Han,Tibetan,Hui And Salar Nationalities In Qinghai

Objective To analyze the common mutations of deafness genes in the hearing impaired population of Han,Tibetan,Hui,salar nationalities in Qinghai,and to observe the differences among different races,providing guidance for the prevention and treatment of deafness in this area.Methods A total of 450 hearing impaired people of Han,Tibetan Hui,and sala nationalities in Qinghai were selected and grouped according to different nationalities.DNA from peripheral venous blood of the subjects was extracted and amplified by PCR,and the results were analyzed by gene chip technology.The total mutation rate and mutation rate of different genes and loci in four nationalities were examined by two tests.Results A total of 185 deafness gene mutations were detected in 450 patients,with a total mutation rate of 41.1%.The mutation rates of Han,Tibetan,Hui and Salar nationalities were 30.4%,35.1%,58.8% and 54.9%,respectively.The difference was statistically significant.There were 123 point mutations,which was 66.5% of the total mutations,25 allele mutations and 37 multilocus mutations.The detection rates of GJB2,GJB3,SLC26A4 and mt12 SrRNA genes were 28%,6.22%,8.89% and 3.78% respectively.52 GJB2 mutations,16 GJB3 mutations,15 SLC26A4 mutations and 4 mt12 SrRNA mutations were detected in Han nationality.Seven GJB2 mutations,one GJB3 mutation,10 SLC26A4 mutations and one mt12 SrRNA mutation were detected in Tibetans.34 cases of GJB2 mutation,6 cases of GJB3 mutation,14 cases of SLC26A4 mutation and 5 cases of mt12 SrRNA mutation were detected in the Hui hearing impaired population.31 GJB2 mutations,5 GJB3 mutations,1 SLC26A4 mutation and 7 mt12 SrRNA mutations were detected in Salars.Conclusion There are some differences in the mutation rate,types and genes of deafness among Han,Tibetan,Hui and Sala people with hearing impairment.The mutation rate of deafness gene in Hui and Sala people with hearing impairment was significantly higher than that in Han and Tibetan people.SLC26A4 is the most common mutant deafness gene in Tibetans with hearing impairment in Qinghai,while GJB2 is the most common mutant in Han,Hui and Sala people with hearing impairment.